Results 11 to 20 of about 8,804 (200)

Hypothyroidism in late-onset Pompe disease

Molecular Genetics and Metabolism Reports, 2016
Purpose: In Pompe disease, a deficiency of acid α-glucosidase enzyme activity leads to pathologic accumulation of glycogen in tissues. Phenotype heterogeneity in Pompe includes an infantile form and late-onset forms (juvenile- and adult-onset forms ...
Joseph Schneider, Lynn A. Burmeister, Kyle Rudser, Chester B. Whitley, Jeanine Jarnes Utz   +4 more
doaj   +2 more sources

Pompe disease [PDF]

East European Journal of Neurology, 2017
. Pompe disease is a rare, progressive disease, the basis of which is the pathogenesis of excessive accumulation of glycogen by lysosomes due to mutation of the GAA gene and loss of activity of the enzyme acidic α-glucosidase. Preferred accumulation of glycogen is noted in cross-linked muscles, but can vary in degrees in other organs and tissues ...
N. Svystun, О. Yelizarova, N. Svyrydova
core   +4 more sources

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, G.K. Papadimas, H. Michelakakis, E. Kararizou, P. Manta   +4 more
doaj   +3 more sources

Combination of acid phosphatase positivity and rimmed vacuoles as useful markers in the diagnosis of adult-onset Pompe disease lacking specific clinical and pathological features [PDF]

Folia Neuropathologica, 2016
Introduction: The clinical and histological presentations of the adult form of Pompe disease may be atypical. In such cases, identifying histological signs that point to the diagnosis would be crucial to avoid a delay in care.
Claire Dolfus, Jean-Philippe Simon, Gérard Landemore, François Leroy, Françoise Chapon   +4 more
doaj   +2 more sources

Cipaglucosidase alfa-atga: Unveiling new horizons in Pompe disease therapy

Health Sciences Review
Pompe disease is a lysosomal storage disease characterized by impaired glycogen breakdown due to an acid α-glucosidase (GAA) enzyme deficiency. Without therapy, children with the severe infantile form do not survive past their first year of life ...
Arshdeep Singh, Rabin Debnath, Aniket Saini, Kushal Seni, Anjali Sharma, Deepak Singh Bisht, Viney Chawla, Pooja A Chawla   +7 more
doaj   +2 more sources

Pompe Disease, a Storage Cardiomyopathy

Cardiogenetics, 2017
Pompe disease also known as glycogen storage disease type II, is a rare and progressive lysosomal storage disorder caused by the deficiency of the enzyme acid α-glucosidase. This results in the accumulation of glycogen in various tissues particularly involving the heart, skeletal muscle and liver. It is inherited in an autosomal recessive manner due to
Tiziana Felice
openaire   +4 more sources

When 'Liver Enzymes' Are Not Hepatic: Late-Onset Pompe Disease. [PDF]

Med J Aust
ABSTRACT Elevated liver function tests are commonly attributed to hepatic disease but may reflect extrahepatic pathology. We describe the case of an 18‐year‐old athletic woman with a 2‐year history of elevated aspartate aminotransferase (AST), alanine aminotransferase (ALT) and creatine kinase (CK) levels, initially investigated extensively for hepatic
Madigan S, England G, Rankin W.
europepmc   +2 more sources

Managing Pompe Disease and Enzyme Replacement Therapy During Pregnancy: Challenges and Considerations. [PDF]

Eur J Neurol
In patients who continued ERT during pregnancy, it appeared to be safe, with no documented adverse effects for mother or child. While most patients experienced a mild worsening of clinical condition during pregnancy, the majority recovered well postpartum.
Theunissen MTM, Hayat Z, Bouhour F, van den Hout JMP, Noury JB, Lagrange E, Jouy A, Taouagh N, van Doorn PA, van der Ploeg AT, Laforêt P, van der Beek NAME.   +11 more
europepmc   +2 more sources

Extent, impact, and predictors of diagnostic delay in Pompe disease: A combined survey approach to unveil the diagnostic odyssey [PDF]

JIMD Reports, 2019
Background Early diagnosis is of substantial benefit for patients with Pompe disease. Yet underdiagnosing and substantial diagnostic delay are still frequent and the determinants of this are unknown.
Florian B. Lagler, Angelika Moder, Marianne Rohrbach, Julia Hennermann, Eugen Mengel, Seyfullah Gökce, Thomas Hundsberger, Kai M. Rösler, Nesrin Karabul, Martina Huemer   +9 more
doaj   +2 more sources

Newborn Screening for Pompe Disease [PDF]

, 2021
Pompe disease, also known as acid maltase deficiency or acid alpha-glucosidase deficiency, in its most severe form results in a rapidly progressive, neonatal-onset skeletal and cardiomyopathy, leading to early infantile death without treatment.

core   +1 more source