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Abstracts of the 50th annual meeting of the European society for paediatric research, 9-12 october 2009, hamburg, Germany.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Authors: PMID: 19764925 [PubMed - in process] (Source: Acta Paediatrica. Supplement)
Source: Acta Paediatrica. Supplement - September 26, 2009 Category: Pediatrics Tags: Acta Paediatr Suppl Source Type: journals

Abstracts for the 3rd Europaediatrics Congress 2008.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Authors: PMID: 18564253 [PubMed - in process] (Source: Acta Paediatrica. Supplement)
Source: Acta Paediatrica. Supplement - June 1, 2008 Category: Pediatrics Tags: Acta Paediatr Suppl Source Type: journals

Abstracts from the 4th EURAIBI International Meeting.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Authors: PMID: 18363961 [PubMed - in process] (Source: Acta Paediatrica. Supplement)
Source: Acta Paediatrica. Supplement - April 1, 2008 Category: Pediatrics Tags: Acta Paediatr Suppl Source Type: journals

Proceedings of the Seventh International Symposium on Lysosomal Storage Diseases. April 2007. Rome, Italy.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Authors: PMID: 18339197 [PubMed - indexed for MEDLINE] (Source: Acta Paediatrica. Supplement)
Source: Acta Paediatrica. Supplement - April 1, 2008 Category: Pediatrics Tags: Acta Paediatr Suppl Source Type: journals

Seventh international symposium on lysosomal storage diseases.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
PMID: 18339179 [PubMed - in process] (Source: Acta Paediatrica. Supplement)
Source: Acta Paediatrica. Supplement - April 1, 2008 Category: Pediatrics Authors: Aerts J, Beck M, Martin R, Scarpa M Tags: Acta Paediatr Suppl Source Type: journals

Lysosomal storage diseases: new challenges.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
PMID: 18339180 [PubMed - in process] (Source: Acta Paediatrica. Supplement)
Source: Acta Paediatrica. Supplement - April 1, 2008 Category: Pediatrics Authors: Scarpa M, Eto Y Tags: Acta Paediatr Suppl Source Type: journals

Biomarkers for lysosomal storage disorders: identification and application as exemplified by chitotriosidase in Gaucher disease.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusion: Besides direct applications for biomarkers in patient management, biomarker searches are likely to render new insights into pathophysiological mechanisms and metabolic adaptations, and may provide new targets for therapeutic intervention. PMID: 18339181 [PubMed - in process] (Source: Acta Paediatrica. Supplement)
Source: Acta Paediatrica. Supplement - April 1, 2008 Category: Pediatrics Authors: Aerts JM, van Breemen MJ, Bussink AP, Ghauharali K, Sprenger R, Boot RG, Groener JE, Hollak CE, Maas M, Smit S, Hoefsloot HC, Smilde AK, Vissers JP, de Jong S, Speijer D, de Koster CG Tags: Acta Paediatr Suppl Source Type: journals

Metachromatic leukodystrophy: genetics, pathogenesis and therapeutic options.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusion: For many years this devastating disorder was considered untreatable and the outlook for patients was poor. Within a comparatively short period of time since the ASA gene was cloned in 1989, genetic and biochemical studies and data generated from newly developed animal models have led to the first clinical trials. It is hoped that these developments will prove beneficial for patients. PMID: 18339182 [PubMed - in process] (Source: Acta Paediatrica. Supplement)
Source: Acta Paediatrica. Supplement - April 1, 2008 Category: Pediatrics Authors: Gieselmann V Tags: Acta Paediatr Suppl Source Type: journals

CNS-directed gene therapy for lysosomal storage diseases.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusion: The development of gene transfer vectors that mediate persistent expression in vivo, the addition of PTDs, a better understanding of lysosomal enzyme trafficking and combining different therapies provide hope that the CNS component of LSDs can be effectively treated. PMID: 18339183 [PubMed - in process] (Source: Acta Paediatrica. Supplement)
Source: Acta Paediatrica. Supplement - April 1, 2008 Category: Pediatrics Authors: Sands MS, Haskins ME Tags: Acta Paediatr Suppl Source Type: journals

Fabry disease: beyond men.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
PMID: 18339184 [PubMed - in process] (Source: Acta Paediatrica. Supplement)
Source: Acta Paediatrica. Supplement - April 1, 2008 Category: Pediatrics Authors: Mehta A, Parini R Tags: Acta Paediatr Suppl Source Type: journals

Newborn screening for lysosomal storage disorders.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusion: With the advent of high-throughput assays for the detection of LSDs, newborn screening for these disorders may soon become a reality. However, careful prospective studies are required to optimize this process before it is used on a larger scale. PMID: 18339185 [PubMed - in process] (Source: Acta Paediatrica. Supplement)
Source: Acta Paediatrica. Supplement - April 1, 2008 Category: Pediatrics Authors: Matern D Tags: Acta Paediatr Suppl Source Type: journals

Fabry disease during childhood: clinical manifestations and treatment with agalsidase alfa.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusion: The manifestations of Fabry disease first become apparent during childhood. It is well known that disease-associated manifestations are progressive; however, it has yet to be determined whether specific treatment with enzyme replacement therapy can prevent the development of the associated severe and life-threatening complications. PMID: 18339186 [PubMed - in process] (Source: Acta Paediatrica. Supplement)
Source: Acta Paediatrica. Supplement - April 1, 2008 Category: Pediatrics Authors: Ramaswami U Tags: Acta Paediatr Suppl Source Type: journals

Early therapeutic intervention in females with Fabry disease?Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusion: If early intervention with ERT in females is to be advocated, it is necessary to demonstrate not only that females with Anderson-Fabry disease have clinical and biochemical features of alpha-galactosidase A deficiency and respond to ERT, but also that early intervention prevents the onset of the later manifestations of the disorder. Any strategy for early therapy should also balance future advantages against any impact on quality of life. PMID: 18339187 [PubMed - in process] (Source: Acta Paediatrica. Supplement)
Source: Acta Paediatrica. Supplement - April 1, 2008 Category: Pediatrics Authors: Hughes DA Tags: Acta Paediatr Suppl Source Type: journals

Apoptotic abnormalities in differential gene expression in peripheral blood mononuclear cells from children with Fabry disease.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusion: This study identifies a number of genes that are differentially expressed in a small cohort of children with Fabry disease relative to healthy controls. These genes may relate to the underlying biological abnormalities in Fabry disease. PMID: 18339188 [PubMed - in process] (Source: Acta Paediatrica. Supplement)
Source: Acta Paediatrica. Supplement - April 1, 2008 Category: Pediatrics Authors: Moore DF, Goldin E, Gelderman MP, Robinson C, Baer J, Ries M, Elkahloun A, Brady RO, Schiffmann R Tags: Acta Paediatr Suppl Source Type: journals

Hunter syndrome: to treat or not to treat.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
PMID: 18339189 [PubMed - in process] (Source: Acta Paediatrica. Supplement)
Source: Acta Paediatrica. Supplement - April 1, 2008 Category: Pediatrics Authors: Muenzer J, Martins AM Tags: Acta Paediatr Suppl Source Type: journals

Diagnosis and management of respiratory involvement in Hunter syndrome.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusion: Respiratory abnormalities are a major contributor to the premature mortality seen in Hunter syndrome. Treatment of these respiratory problems requires the careful attention of clinicians skilled in the recognition, diagnosis, management and treatment of Hunter syndrome. PMID: 18339190 [PubMed - in process] (Source: Acta Paediatrica. Supplement)
Source: Acta Paediatrica. Supplement - April 1, 2008 Category: Pediatrics Authors: Kamin W Tags: Acta Paediatr Suppl Source Type: journals

Magnetic resonance imaging findings in Hunter syndrome.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusion: Future studies should focus on how structural and chemical signatures in the brain of Hunter patients are altered before and after enzyme replacement therapy, and how those alterations correlate with clinical outcome. PMID: 18339191 [PubMed - in process] (Source: Acta Paediatrica. Supplement)
Source: Acta Paediatrica. Supplement - April 1, 2008 Category: Pediatrics Authors: Finn CT, Vedolin L, Schwartz IV, Giugliani R, Haws CA, Prescot AP, Renshaw PF Tags: Acta Paediatr Suppl Source Type: journals

Methods for assessing neurodevelopment in lysosomal storage diseases and related disorders: a multidisciplinary perspective.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusion: Treatment effects in patients with neurodegenerative LSRDs are best evaluated by repeated measures and longitudinal analysis of each domain of function. PMID: 18339192 [PubMed - in process] (Source: Acta Paediatrica. Supplement)
Source: Acta Paediatrica. Supplement - April 1, 2008 Category: Pediatrics Authors: Martin HR, Poe MD, Reinhartsen D, Pretzel RE, Roush J, Rosenberg A, Dusing SC, Escolar ML Tags: Acta Paediatr Suppl Source Type: journals

Enzyme replacement therapy with idursulfase in patients with mucopolysaccharidosis type II.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusion: This short review provides an overview of the natural history of MPS II and current experience of enzyme replacement therapy with idursulfase. PMID: 18339193 [PubMed - in process] (Source: Acta Paediatrica. Supplement)
Source: Acta Paediatrica. Supplement - April 1, 2008 Category: Pediatrics Authors: Wraith JE Tags: Acta Paediatr Suppl Source Type: journals

Gaucher disease: improving management.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
PMID: 18339194 [PubMed - in process] (Source: Acta Paediatrica. Supplement)
Source: Acta Paediatrica. Supplement - April 1, 2008 Category: Pediatrics Authors: Bembi B, Deegan P Tags: Acta Paediatr Suppl Source Type: journals

Gaucher disease: unmet treatment needs.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusion: ERT currently remains the most effective treatment for Gaucher disease. New treatments are emerging, but deficiencies in understanding basic pathophysiological mechanisms hinder progress. PMID: 18339195 [PubMed - in process] (Source: Acta Paediatrica. Supplement)
Source: Acta Paediatrica. Supplement - April 1, 2008 Category: Pediatrics Authors: Mehta A Tags: Acta Paediatr Suppl Source Type: journals

Substrate reduction therapy.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusion: SRT is an oral alternative treatment option for patients with type 1 Gaucher disease unwilling or unable to receive ERT. With the recent reports of clinical improvement/stabilization of CNS manifestations following SRT in patients with Niemann-Pick disease type C, miglustat may also have a role to play in the management of patients with glycosphingolipid storage in the brain. Furthermore, as SRT synergises with other therapeutic modalities, it may also prove to be a key component of combination therapies in the future. PMID: 18339196 [PubMed - in process] (Source: Acta Paediatrica. Supplement)
Source: Acta Paediatrica. Supplement - April 1, 2008 Category: Pediatrics Authors: Platt FM, Jeyakumar M Tags: Acta Paediatr Suppl Source Type: journals

Posters presented at the Seventh International Symposium on Lysosomal Storage Diseases.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Authors: PMID: 18339197 [PubMed - in process] (Source: Acta Paediatrica. Supplement)
Source: Acta Paediatrica. Supplement - April 1, 2008 Category: Pediatrics Tags: Acta Paediatr Suppl Source Type: journals

Early causes of child obesity and implications for prevention.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Child obesity is becoming a serious public health concern, and major research effort is being devoted both to understand its aetiology and to improve the effectiveness of prevention strategies. Early growth patterns, both prenatally and postnatally, are emerging as important markers of later obesity risk, with rapid neonatal weight gain a clear risk factor for later obesity and metabolic syndrome. Thus, in two distinct senses child obesity is a growing problem. The paper summarises current evidence on growth pattern and obesity, relating it to infant feeding practice and appetite regulation, and highlights the areas in...
Source: Acta Paediatrica. Supplement - April 1, 2007 Category: Pediatrics Authors: Cole TJ Tags: Acta Paediatr Suppl Source Type: journals

Parental feeding practices and children's weight.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
We describe current projects in our own group that are designed to take forward these recommendations. PMID: 17313408 [PubMed - indexed for MEDLINE] (Source: Acta Paediatrica. Supplement)
Source: Acta Paediatrica. Supplement - April 1, 2007 Category: Pediatrics Authors: Wardle J, Carnell S Tags: Acta Paediatr Suppl Source Type: journals

Prevention of overweight in the school arena.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
In conclusion, half of the studies were successful and had an effect on either overweight or obesity. Much more research is needed in order to effectively prevent paediatric obesity. PMID: 17313409 [PubMed - indexed for MEDLINE] (Source: Acta Paediatrica. Supplement)
Source: Acta Paediatrica. Supplement - April 1, 2007 Category: Pediatrics Authors: Lissau I Tags: Acta Paediatr Suppl Source Type: journals

School-based interventions to prevent overweight and obesity in prepubertal children: process and 4-years outcome evaluation of the Kiel Obesity Prevention Study (KOPS).Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
CONCLUSIONS: School-based health promotion has sustainable effects on nutritional knowledge and remission of overweight being most pronounced in girls. The effect of intervention was most pronounced using TSF and WC as criteria of overweight. PMID: 17313410 [PubMed - indexed for MEDLINE] (Source: Acta Paediatrica. Supplement)
Source: Acta Paediatrica. Supplement - April 1, 2007 Category: Pediatrics Authors: Danielzik S, Pust S, Müller MJ Tags: Acta Paediatr Suppl Source Type: journals

Determinants of long-term weight maintenance.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
In conclusion, since social and economic problems seem to increase the risk of weight gain more attention should be paid to environments that promote healthy weight maintenance. PMID: 17313411 [PubMed - indexed for MEDLINE] (Source: Acta Paediatrica. Supplement)
Source: Acta Paediatrica. Supplement - April 1, 2007 Category: Pediatrics Authors: Sarlio-Lähteenkorva S Tags: Acta Paediatr Suppl Source Type: journals

Child eating patterns and weight regulation: a developmental behaviour genetics framework.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
There is relatively limited knowledge about the development of child eating patterns and how they may contribute to excess weight gain in early life. Particularly scarce are genetically informative studies that addressed environmental and genetic influences which can be challenging to disentangle. A review of this literature can help identify ongoing themes in the field and may stimulate new ideas for future research. The purpose of this paper is to provide an overview about how select environmental factors (e.g. the portion size of foods) and parental feeding practices (e.g. dietary restriction) can affect children's ...
Source: Acta Paediatrica. Supplement - April 1, 2007 Category: Pediatrics Authors: Kral TV, Faith MS Tags: Acta Paediatr Suppl Source Type: journals

The invisible fat.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Childhood and adolescence are decisive periods in human life. Body composition and psychological changes determine nutritional requirements as well as eating and physical activity behavior variability. Aims of the present paper are to discuss recent advances in measurements for quantifying total body and regional adiposity, and for mapping adipose tissue distribution in order to evaluate metabolic risk factors in children. Among the new methods available for assessing pediatric body composition, magnetic resonance imaging (MRI) can serve as a reference method for measuring tissue and organ volumes because estimates is ...
Source: Acta Paediatrica. Supplement - April 1, 2007 Category: Pediatrics Authors: Pietrobelli A, Malavolti M, Fuiano N, Faith MS Tags: Acta Paediatr Suppl Source Type: journals

Physical activity-key issues in treatment of childhood obesity.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Changes in physical activity with the aim of increasing energy expenditure are usually an important component of childhood obesity treatment. Physical activity also has several other aspects that are positive for the obese child's health, such as improving the metabolic profile and psychological well being. The aim of this paper is to give a short review of what we know about physical activity in paediatric obesity treatment. In addition, practical recommendations will be presented which a health care provider can suggest to obese children and their families with a special focus on daily activity, participation in phys...
Source: Acta Paediatrica. Supplement - April 1, 2007 Category: Pediatrics Authors: Nowicka P, Flodmark CE Tags: Acta Paediatr Suppl Source Type: journals

Structure-function relationship for lysosomal enzymes.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
PMID: 17391431 [PubMed - indexed for MEDLINE] (Source: Acta Paediatrica. Supplement)
Source: Acta Paediatrica. Supplement - April 1, 2007 Category: Pediatrics Authors: von Figura K Tags: Acta Paediatr Suppl Source Type: journals

Structure-function relationships in alpha-galactosidase A.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
CONCLUSION: Over half of the residues in the protein have been found to have changes in patients with Fabry disease. Most of these genetic mutations lead to disruption of the hydrophobic core of the protein, thus Fabry disease is primarily a disease of protein-folding. Further understanding of alpha-galactosidase A, one of the best studied members of the lysosomal storage disease family, will lead to increased understanding of other lysosomal storage diseases and other protein-folding diseases. PMID: 17391432 [PubMed - indexed for MEDLINE] (Source: Acta Paediatrica. Supplement)
Source: Acta Paediatrica. Supplement - April 1, 2007 Category: Pediatrics Authors: Garman SC Tags: Acta Paediatr Suppl Source Type: journals

Glycosylation of therapeutic proteins in different production systems.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
CONCLUSION: For a given protein, changes in the type of host cell, composition of the culture media and fermentation conditions during process development will most likely result in changes in the site occupation and heterogeneity of glycosylation. This, of course, can influence the therapeutic profile. Therefore, the early selection of the host cell and selection of upstream parameters are key in the process development of a product. PMID: 17391433 [PubMed - indexed for MEDLINE] (Source: Acta Paediatrica. Supplement)
Source: Acta Paediatrica. Supplement - April 1, 2007 Category: Pediatrics Authors: Werner RG, Kopp K, Schlueter M Tags: Acta Paediatr Suppl Source Type: journals

Neuropathology of LSDs.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
PMID: 17391435 [PubMed - indexed for MEDLINE] (Source: Acta Paediatrica. Supplement)
Source: Acta Paediatrica. Supplement - April 1, 2007 Category: Pediatrics Authors: Kolodny E Tags: Acta Paediatr Suppl Source Type: journals

Pathogenic mechanisms in lysosomal disease: a reappraisal of the role of the lysosome.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
CONCLUSION: This broader view of the role of lysosomes in cells not only provides insight into how single gene defects impacting on lysosomal function can result in the plethora of complex cellular transformations characteristic of these diseases, but also suggests new and innovative therapies that may hold considerable promise for ameliorating disease progression. PMID: 17391436 [PubMed - indexed for MEDLINE] (Source: Acta Paediatrica. Supplement)
Source: Acta Paediatrica. Supplement - April 1, 2007 Category: Pediatrics Authors: Walkley SU Tags: Acta Paediatr Suppl Source Type: journals

Quantification of brain tissue alterations in Fabry disease using diffusion-tensor imaging.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
CONCLUSION: DTI is more sensitive in detecting brain tissue changes in Fabry disease than conventional MRI. DTI measurements could provide appropriate surrogate parameters with which to monitor the natural history of structural brain involvement and potential effects of therapy (such as enzyme replacement) in Fabry disease. PMID: 17391437 [PubMed - indexed for MEDLINE] (Source: Acta Paediatrica. Supplement)
Source: Acta Paediatrica. Supplement - April 1, 2007 Category: Pediatrics Authors: Fellgiebel A, Albrecht J, Dellani PR, Schermuly I, Stoeter P, Müller MJ Tags: Acta Paediatr Suppl Source Type: journals

Sphingolipids in physiology and pathophysiology.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
PMID: 17391439 [PubMed - indexed for MEDLINE] (Source: Acta Paediatrica. Supplement)
Source: Acta Paediatrica. Supplement - April 1, 2007 Category: Pediatrics Authors: Gieselmann V Tags: Acta Paediatr Suppl Source Type: journals

Sphingosine 1-phosphate in neural signalling and function.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
CONCLUSION: Identification of potential intracellular targets of S1P remains a crucial objective for attaining a better understanding of the potent role this molecule plays in regulating cell fate. PMID: 17391440 [PubMed - indexed for MEDLINE] (Source: Acta Paediatrica. Supplement)
Source: Acta Paediatrica. Supplement - April 1, 2007 Category: Pediatrics Authors: Milstien S, Gude D, Spiegel S Tags: Acta Paediatr Suppl Source Type: journals

Vascular effects of sphingolipids.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
CONCLUSION: We conclude that sphingomyelin metabolites are important endogenous modulators of vascular function, which may contribute to the pathophysiology of some diseases and be targets for therapeutic interventions. PMID: 17391441 [PubMed - indexed for MEDLINE] (Source: Acta Paediatrica. Supplement)
Source: Acta Paediatrica. Supplement - April 1, 2007 Category: Pediatrics Authors: Michel MC, Mulders AC, Jongsma M, Alewijnse AE, Peters SL Tags: Acta Paediatr Suppl Source Type: journals

Sphingosine 1-phosphate as an intracellular messenger and extracellular mediator in immunity.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
CONCLUSION: Most investigations of the effects of the S1P-S1P(1) axis in immunity have focused primarily on rapid, transient alterations in lymphocyte migration and trafficking, and on mast cell migration and secretion of chemical mediators. The discovery of functional S1P(1)-G protein signalling complexes in the nuclear membranes of activated lymphocytes, that are coupled to the transduction of prolonged inhibition of proliferative responses by intracellular S1P, adds a new dimension to the role of the S1P-S1P(1) axis in immunity. Recruitment of this novel, potentially immunosuppressive, function of S1P(1) may be benefici...
Source: Acta Paediatrica. Supplement - April 1, 2007 Category: Pediatrics Authors: Goetzl EJ, Wang W, McGiffert C, Liao JJ, Huang MC Tags: Acta Paediatr Suppl Source Type: journals

Update on mucopolysaccharidosis type II.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
PMID: 17391444 [PubMed - indexed for MEDLINE] (Source: Acta Paediatrica. Supplement)
Source: Acta Paediatrica. Supplement - April 1, 2007 Category: Pediatrics Authors: Beck M, Wraith E Tags: Acta Paediatr Suppl Source Type: journals

Animal models for mucopolysaccharidosis disorders and their clinical relevance.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
CONCLUSION: Animal models of human genetic disease continue to play an important role in understanding the molecular and physiological consequences of lysosomal storage diseases and to provide an opportunity to evaluate the efficacy and safety of therapeutic interventions. PMID: 17391445 [PubMed - indexed for MEDLINE] (Source: Acta Paediatrica. Supplement)
Source: Acta Paediatrica. Supplement - April 1, 2007 Category: Pediatrics Authors: Haskins ME Tags: Acta Paediatr Suppl Source Type: journals

A clinical study of 77 patients with mucopolysaccharidosis type II.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
CONCLUSION: Our results suggest that there is a considerable delay between the onset of signs and symptoms and the diagnosis of MPS II in Brazil (and probably in South America as well), and that many complications of this disease are underdiagnosed and undertreated. Therefore, the implementation of programmes aiming to increase the awareness of the disease, the availability of biochemical diagnostic tests and the provision of better support to affected patients is urgently needed. PMID: 17391446 [PubMed - indexed for MEDLINE] (Source: Acta Paediatrica. Supplement)
Source: Acta Paediatrica. Supplement - April 1, 2007 Category: Pediatrics Authors: Schwartz IV, Ribeiro MG, Mota JG, Toralles MB, Correia P, Horovitz D, Santos ES, Monlleo IL, Fett-Conte AC, Sobrinho RP, Norato DY, Paula AC, Kim CA, Duarte AR, Boy R, Valadares E, De Michelena M, Mabe P, Martinhago CD, Pina-Neto JM, Kok F, Leistner-Segal Tags: Acta Paediatr Suppl Source Type: journals

Mucopolysaccharidosis type II: an update on mutation spectrum.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
CONCLUSION: Although genotype-phenotype correlations may be difficult to establish, they will be of increasing importance for choosing the most appropriate therapy for an individual patient, as new therapeutic strategies may be targeted according to phenotype. PMID: 17391447 [PubMed - indexed for MEDLINE] (Source: Acta Paediatrica. Supplement)
Source: Acta Paediatrica. Supplement - April 1, 2007 Category: Pediatrics Authors: Froissart R, Da Silva IM, Maire I Tags: Acta Paediatr Suppl Source Type: journals

Optimization of concomitant medication in Fabry cardiomyopathy.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
CONCLUSION: In the era of enzyme replacement therapy, conventional pharmacological and device-based therapies remain central to the management of cardiovascular symptoms and the prevention of complications, such as arrhythmia and stroke. PMID: 17391449 [PubMed - indexed for MEDLINE] (Source: Acta Paediatrica. Supplement)
Source: Acta Paediatrica. Supplement - April 1, 2007 Category: Pediatrics Authors: Close L, Elliott P Tags: Acta Paediatr Suppl Source Type: journals

Gastrointestinal symptoms in Fabry disease: everything is possible, including treatment.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
CONCLUSION: Gastrointestinal symptoms in Fabry disease may have been underestimated. The FOS database supports previous reports of beneficial effects of enzyme replacement therapy on gastrointestinal symptoms in Fabry disease. PMID: 17391450 [PubMed - indexed for MEDLINE] (Source: Acta Paediatrica. Supplement)
Source: Acta Paediatrica. Supplement - April 1, 2007 Category: Pediatrics Authors: Hoffmann B, Keshav S Tags: Acta Paediatr Suppl Source Type: journals

Supporting the patient and family with mucopolysaccharidosis disorders: the role of patient organizations.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
PMID: 17391451 [PubMed - indexed for MEDLINE] (Source: Acta Paediatrica. Supplement)
Source: Acta Paediatrica. Supplement - April 1, 2007 Category: Pediatrics Authors: Lavery C, Ramaswami U Tags: Acta Paediatr Suppl Source Type: journals

Supporting the patient and family with Fabry disease.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
PMID: 17391452 [PubMed - indexed for MEDLINE] (Source: Acta Paediatrica. Supplement)
Source: Acta Paediatrica. Supplement - April 1, 2007 Category: Pediatrics Authors: Romero MA, Milligan A, Briva J, Basalla D Tags: Acta Paediatr Suppl Source Type: journals

Policy Interpretation Network on Children's Health and Environment.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
CONCLUSIONS: The policy recommendations are important input for policy advisers, policy makers and public health authorities at all policy levels. The recommendations are also of direct relevance to interest groups, such as environmental NGOs including child health and advocacy groups. The policy recommendations for each policy level were prioritized. High priorities were given to reduce exposure to environmental tobacco smoke, transport related air pollution, indoor air and mercury. PMID: 17000563 [PubMed - indexed for MEDLINE] (Source: Acta Paediatrica. Supplement)
Source: Acta Paediatrica. Supplement - October 1, 2006 Category: Pediatrics Authors: van den Hazel P, Zuurbier M, Bistrup ML Tags: Acta Paediatr Suppl Source Type: journals