Results 11 to 20 of about 4,895 (172)

Acid maltase deficiency in adolescence: report of an unusual case

The Turkish Journal of Pediatrics, 1982
R Olguntürk, A Bilgiç, M Cağlar, F Sinangil   +3 more
doaj   +3 more sources

PERCC1-associated enteropathy: Diagnostic challenges and enteral autonomy achieved with teduglutide. [PDF]

JPGN Rep
Abstract Congenital diarrheas and enteropathies (CODE) are rare inherited disorders characterized by early‐onset intractable diarrhea. Though progress has been made in elucidating the genetic basis of CODE, much remains to be discovered. Another challenge is the lack of curative therapies—treatment is primarily supportive including enteral and ...
Tran A, Nguyen V, Huynh P.
europepmc   +2 more sources

A Network Pharmacology and Experimental Validation Strategy for Hypoglycemic Study of Lonicerae Japonicae Flos on Diabetes. [PDF]

J Cell Mol Med
ABSTRACT As diabetes has become an important public health issue, Lonicerae Japonicae Flos (LJF) had gradually attracted increasing attention on diabetes. This study aimed to investigate the hypoglycemic ingredients and underlying mechanisms of LJF in diabetes using an integrated strategy of network pharmacology, molecular docking and experimental ...
Nan Z, Xiaolong L, Chunyan L, Lu R, Chao G, Jintao X.   +5 more
europepmc   +2 more sources

Characterization of Gait and Postural Regulation in Late-Onset Pompe Disease

Applied Sciences, 2020
Pompe disease is a multisystemic disorder with the hallmark of progressive skeletal muscle weakness that often results in difficulties in walking and balance. However, detailed characterization of gait and postural regulation with this disease is lacking.
Ilka Schneider, Stephan Zierz, Stephan Schulze, Karl-Stefan Delank, Kevin G. Laudner, Richard Brill, René Schwesig   +6 more
doaj   +1 more source

Infantile Pompe disease with intrauterine onset: a case report and literature review

Italian Journal of Pediatrics, 2022
Background Pompe disease is a rare autosomal recessive disease. Acid alpha−glucosidase (GAA) deficiency leads to glycogen storage in lysosomes, causing skeletal, cardiac, and smooth muscle lesions.
Hongmin Xi, Xianghong Li, Lili Ma, Xiangyun Yin, Ping Yang, Lulu Zhang   +5 more
doaj   +1 more source

A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations

Orphanet Journal of Rare Diseases, 2012
Background Pompe disease (Glycogen storage disease type II, GSD II, acid alpha-glucosidase deficiency, acid maltase deficiency, OMIM # 232300) is an autosomal-recessive lysosomal storage disorder due to a deficiency of acid alpha-glucosidase (GAA, acid ...
Herzog Andreas, Hartung Ralf, Reuser Arnold J J, Hermanns Pia, Runz Heiko, Karabul Nesrin, Gökce Seyfullah, Pohlenz Joachim, Kampmann Christoph, Lampe Christina, Beck Michael, Mengel Eugen   +11 more
doaj   +1 more source

Recommendations for Infantile-Onset and Late-Onset Pompe Disease: An Iranian Consensus

Frontiers in Neurology, 2021
Background: Pompe disease, also denoted as acid maltase or acid α-glucosidase deficiency or glycogen storage disease type II, is a rare, autosomal recessive lysosomal storage disorder.
Farzad Fatehi, Mahmoud Reza Ashrafi, Marzieh Babaee, Behnaz Ansari, Mehran Beiraghi Toosi, Reza Boostani, Peyman Eshraghi, Atefeh Fakharian, Zahra Hadipour, Bahram Haghi Ashtiani, Hossein Moravej, Yalda Nilipour, Payam Sarraf, Keyhan Sayadpour Zanjani, Shahriar Nafissi   +14 more
doaj   +1 more source

Calf muscle hypertrophy in late onset pompe's disease

Archives of Medicine and Health Sciences, 2016
Pompe's disease (glycogen storage disease Type 2, acid maltase deficiency) is characterized by a progressive myopathy due to accumulation of glycogen in skeletal muscles in addition to various tissues.
M Suraj Menon, P Sreedharan Roopch, K Abdulkhayar Kabeer, C Velayudhan Shaji   +3 more
doaj   +1 more source

Hearing loss in infantile Pompe's disease and determination of underlying pathology in the knockout mouse

Neurobiology of Disease, 2004
Hearing deficit occurs in several lysosomal storage disorders but has so far not been recognized as a symptom of Pompe's disease (glycogen storage disease type II).
Joep H.J Kamphoven, Martijn M de Ruiter, Leon P.F Winkel, Hannerieke M.P Van den Hout, Jan Bijman, Chris I De Zeeuw, Hans L Hoeve, Bert A Van Zanten, Ans T Van der Ploeg, Arnold J.J Reuser   +9 more
doaj   +1 more source

Genotype-phenotype correlation in adult-onset acid maltase deficiency [PDF]

, 1995
We performed a clinical, biochemical, and genetic study in 16 patients from 11 families with adult‐onset acid maltase deficiency. All patients were compound heterozygotes and carried the IVS1(– 13T→G) transversion on one allele; the second allele ...
Kroos, M.A. (Marian), Boogaard, M.H. (Marie-José Henriëtte) van den, Wokke, J.H.J. (John), Ausems, M.G.E.M. (Margreet), Reuser, A.J.J. (Arnold), Diggelen, O.P. (Otto) van, Boer, M.A. (Marijke), Jennekens, F.G.I. (Frans G.), Ippel, E.F., Amstel, H.K.P. van   +9 more
core   +1 more source