Results 51 to 60 of about 8,917 (217)
Highlighting intrafamilial clinical heterogeneity in late-onset Pompe disease
Molecular Genetics and Metabolism Reports, 2014 Background/aims: Pompe disease is a rare metabolic disorder caused by deficiency of the lysosomal enzyme acid alpha-glycosidase (GAA). The late onset form of the disease is characterized by muscle weakness and respiratory involvement of variable severity.
C. Papadopoulos +4 more
doaj +1 more source
2285 Efficacy and safety of avalglucosidase alfa in participants with late-onset pompe disease after 97 weeks of treatment during the COMET trial [PDF]
, 2022 Robert D. Henderson +28 more
openalex +1 more source
Implantable Drug Delivery Systems for Skeletal Muscles and Eyes
Advanced NanoBiomed Research, Volume 6, Issue 2, February 2026.This review highlights the different types of recent implantable drug delivery systems (IDDS) fabricated for a use with skeletal muscles, and with eyes. It presents the developments already made and the current research directions, showing the evolution of IDDS and their great diversity.
Serge Ostrovidov +8 more
wiley +1 more source
Clinical and Translational Science, Volume 19, Issue 2, February 2026.ABSTRACT The Ministerial Ordinance on Good Post‐Marketing Study Practice for Drugs was amended by the Ministry of Health, Labour and Welfare (MHLW) in 2018 to clearly define post‐marketing database studies (DBS) as a measure of pharmacovigilance activities for approved medical products in Japan.
Suguru Okami +2 more
wiley +1 more source
EAN 2024 Guideline on the Diagnostic Approach to Oligo/Asymptomatic HyperCKemia
European Journal of Neurology, Volume 33, Issue 2, February 2026.ABSTRACT Background Recent epidemiological studies on the general population reveal that up to 1.3% have oligo/asymptomatic hyperCKemia. Objective This guideline aims to provide updated, evidence‐based recommendations on investigating persons older than 18 years.
T. Kyriakides +15 more
wiley +1 more source
Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.ABSTRACT Natural‐history datasets have become pivotal for drug development and for shaping clinical‐practice guidelines in rare diseases, yet many lysosomal storage disorders would benefit from deep phenotyping and modern analytic methods. Our objective was to integrate the past decade of genomic, cellular, treatment‐outcome, and regulatory advances ...
Noor Ul Ain +2 more
wiley +1 more source
Child Neurology: Pompe disease [PDF]
Neurology, 2012 A 10-month-old full-term baby girl was transferred to our tertiary care hospital for respiratory distress and hypoxemia. Developmental history revealed significant motor delay. On physical examination, she was noted to be hypotonic, to be dysmorphic with macroglossia, and to have hepatomegaly.
Deepa S, Rajan, Hoda, Abdel-Hamid
openaire +2 more sources
From Molecule to Meaning: Neuronopathic Biomarkers and Clinical Relevance in GM1
Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.ABSTRACT GM1 gangliosidosis is a rare, progressively neurodegenerative lysosomal storage disorder characterized by profound central nervous system involvement and substantial clinical heterogeneity. The development of reliable biomarkers is essential for tracking disease progression, stratifying patients, and advancing clinical trial readiness. Primary
Krista Casazza +3 more
wiley +1 more source
The late-onset form of Pompe disease [PDF]
, 2021 Radka Mišurová, Vĕra Malinová
openalex +1 more source
GMPPB‐CDG Results in Lysosomal Dysfunction and Acid Alpha‐Glucosidase Deficiency
Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.ABSTRACT GDP‐mannose pyrophosphorylase B (GMPPB) deficiency is a congenital disorder of glycosylation due to pathogenic variants of the GMPPB gene. GMPPB catalyzes GDP‐mannose synthesis, an early step in multiple glycosylation pathways, including N‐glycosylation, O‐mannosylation, C‐mannosylation, and glycosylphosphatidylinositol‐anchor formation.
Carla Damiano +20 more
wiley +1 more source