Results 51 to 60 of about 4,895 (172)

Juvenile acid maltase deficiency

, 2005
An eight-year-old Chinese girl presented with a slowly progressive generalized muscle weakness and wasting, complicated by respiratory failure. She had many hospital admissions requiring ventilator support.
Tuan Norhafizah binti Tuan Zakaria
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Antidiabetic Potential of the Nepalese Potentilla fulgens Revealed by In Vitro and In Silico Analysis

Journal of Chemistry, Volume 2026, Issue 1, 2026.
Diabetes mellitus (DM) is a metabolic disorder caused by a deficiency in insulin secretion/function, characterized by increased glucose levels in the blood. Inhibiting major carbohydrate‐hydrolyzing enzymes, such as α‐amylase and α‐glucosidase, either in saliva or in the digestive tract, could be an important strategy for controlling high blood glucose
Darbin Kumar Poudel, Karan Khadayat, Sabina Ghimire, Prabodh Satyal, William N. Setzer, Munmun Bardhan   +5 more
wiley   +1 more source

Adult onset acid maltase deficiency

, 2003
Glikojen depo hastalığı tip II (GDHII, Pompe hastalığı), lizozomal alfa-glukosidaz eksikliğine bağlı otosomal resesif bir, hastalıktır, infantil, juvenil ve adult olmak üzere üç farklı form tanımlanmıştır.
Yakup Sarıca, Suzan Zorludemir, Filiz Koç   +2 more
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The variability of Pompeʹs disease : a clinical, biochemical and genetic study of glycogen storage disease type 2, or acid maltase deficiency [PDF]

, 1979
Pompe's disease is an autosomal recessive metabolic disorder, characterized by storage of glycogen in organs and tissues, and associated with deficiency of the lysosomal enzyme acid maltase (acid a -I, 4-glucosidase, E. C. 3 .2.1.20).
Loonen, M.C.B. (Christa)
core   +1 more source

Muscle computed tomography in adult-onset acid maltase deficiency

, 1998
Nine patients with adult-onset acid maltase deficiency (Pompe's disease) were examined clinically and with computed tomography (CT). The CT scan showed early and severe involvement of the muscles of trunk and thighs, with selective sparing of the tensor ...
van der Ree, TC, de Jager, AEJ, van der Vliet, TM, Loonen, MCB, Oosterink, BJ, Loonen, MCB; id_orcid   +5 more
core   +1 more source

Risks for human health related to the presence of plant lectins in food

EFSA Journal, Volume 24, Issue 1, January 2026.
Abstract The European Commission asked the European Food Safety Authority (EFSA) to assess the risk related to the presence of plant lectins in food. Based on the available evidence, the CONTAM Panel considered only phytohaemagglutinin (PHA), a legume lectin from beans (Phaseolus sp.), for the risk characterisation.
EFSA Panel on Contaminants in the Food Chain (CONTAM), Helle Katrine Knutsen, Agneta Åkesson, Vasileios Bampidis, Margherita Bignami, Laurent Bodin, James Kevin Chipman, Gisela Degen, Antonio Hernández‐Jerez, Tim Hofer, Christer Hogstrand, Stefano Landi, Jean‐Charles Leblanc, Kyriaki Machera, Isabelle P. Oswald, Guido Rychen, Salomon Sand, Katharina Vejdovszky, Barbara Viviani, Hanne Frøkiær, Bettina Grasl‐Kraupp, Patrick Mulder, Pierre Rougé, Heather Wallace, Marios Georgiadis, José Ángel Gómez Ruiz, Eirini Kouloura, Olaf Mosbach‐Schulz, Lydia Alarcón Asensio, Eleni Gkimprixi, Evangelia Ntzani   +30 more
wiley   +1 more source

Adult Onset Acid Maltase Deficiency [Adult Basßlangiçli Asi·t Maltaz Eksi·kli·g i·]

, 2003
Glycogen storage disease type II (GSDII, Pompe's disease) is an autosomal recessive inherited deficiency of lysosomal alpha-glucosidase (GAA). Three different clinical forms as infantile, juvenile and adult form have been descibed.
Koç F., Zorludemir S., Sarica Y.
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GAA repeat expansion mutation mouse models of Friedreich ataxia exhibit oxidative stress leading to progressive neuronal and cardiac pathology

, 2006
Friedreich ataxia (FRDA) is a neurodegenerative disorder caused by an unstable GAA repeat expansion mutation within intron 1 of the FXN gene. However, the origins of the GAA repeat expansion, its unstable dynamics within different cells and tissues, and ...
Pinto, Ricardo Mouro, Blake, Julian, Al-Mahdawi, S, Lowrie, Margaret B., Hughes, Sian, Pook, Mark A., Webster, Zoe, Varshney, Dhaval, Pook, MA, Lawrence, Lorraine, King, Rosalind, Cooper, J. Mark, Al-Mahdawi, Sahar, Mouro Pinto, R   +13 more
core   +1 more source

Alglucosidase alfa: Long term use in the treatment of patients with Pompe disease

Therapeutics and Clinical Risk Management, 2009
Michael BeckChildren’s Hospital, University of Mainz, Mainz, GermanyAbstract: Pompe disease is a lysosomal storage disorder characterized by muscle weakness and cardiomyopathy.
Michael Beck
doaj  

Acid maltase deficiency--Pompe\u27s disease

, 2011
Mutation in genes encoding for proteins involved in glycogen synthesis, degradation or regulation results in various inborn errors of glycogen metabolism.
Tariq, M., Ahmed, Shahid, Jamil, Sajjad
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