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Total 72 results found since Jan 2013.
Home-Based Infusion of Alglucosidase Alfa Can Safely be Implemented in Adults with Late-Onset Pompe Disease: Lessons Learned from 18,380 Infusions
ConclusionGiven the small numbers of IARs that occurred with the home infusions, of which only one was severe, we conclude that alglucosidase alfa can be administered safely in the home situation, provided the appropriate infrastructure is present.
Source: BioDrugs - June 16, 2023 Category: Drugs & Pharmacology Source Type: research
Respiratory features of centronuclear myopathy in the Netherlands
Centronuclear myopathies (CNMs) are a group of inherited neuromuscular disorders which are histopathologically characterized by the presence of nuclei in the center of muscle cells [1]. CNM is clinically and genetically heterogenous, mainly caused by mutations in MTM1, DNM2, RYR1, TTN, and BIN1 [2 –5]. The majority of the corresponding proteins are involved in membrane trafficking and the formation of structures crucial for excitation-contraction coupling, and are thus essential for normal muscle function [6].
Source: Neuromuscular Disorders - June 11, 2023 Category: Neurology Authors: Sietse Bouma, Nicolle Cobben, Karlijn Bouman, Michael Gaytant, Ries van de Biggelaar, Jeroen van Doorn, Stacha F.I. Reumers, Nicoline BM Voet, Jonne Doorduin, Corrie E. Erasmus, Erik-Jan Kamsteeg, Heinz Jungbluth, Peter Wijkstra, Nicol C. Voermans Tags: Research paper Source Type: research
Late Onset Pompe's Disease: Clinical, Pathological & amp;amp; Molecular Analysis of Two Adolescent Patients
CONCLUSION: Genetic diseases manifest as rare phenotype which in itself is a clinical puzzle. When rare disease present with a rare manifestation of itself, this pose a great diagnostic challenge. Pompe's disease is one of the very few inherited disorder which has definitive treatment- enzyme replacement therapy. Molecular characterization of the variant is absolutely necessary before initiating therapy. References Ausems MG, Verbiest J, Hermans MM, et al. Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling. Eur J Hum Genet 1999;7(6):713-716. Van der Beek NA,...
Source: Journal of the Association of Physicians of India - April 28, 2023 Category: General Medicine Authors: Arun Sree Parameswaran None Singh Lokesh Saini Divya Aggarwal Source Type: research
