Results 191 to 200 of about 1,825,008 (215)

Clinical and biochemical footprints of inherited metabolic disorders: XIX. Hypoglycemia. [PDF]

Mol Genet Metab
Rossi A, Bocca G, Bos DK, Ferreira CR, Blau N, Derks TGJ.   +5 more
europepmc   +1 more source

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Studies in Glycogen Storage Disease. IV. Leukocyte phosphorylase in a family with type VI GSD

Metabolism, 1970
Abstract A patient with Type VI Glycogen Storage Disease and members of his family have been studied utilizing leukocyte phosphorylase activities and erythrocyte glycogen levels to help elucidate the mode of inheritance of this disease. Leukocyte phosphorylase activities were found to be low in the patient, his clinically normal brother, parents ...
D, Schwartz, M, Savin, A, Drash, J, Field   +3 more
openaire   +2 more sources

GSD Typ II und Typ IV: Biochemische und molekulargenetische Analyse bei Patienten mit Mangel an saurer α-Glukosidase bzw. mit Branchingenzymmangel

2005
Die Glykogen-Speicherkrankheit (GSD) ist eine seltene Stoffwechselerkrankung, die in verschiedenen Ausprägungen (Typen) vorkommt. Im ersten Teil der Arbeit wird durch Messung der Enzymaktivität von saurer α-Glukosidase und der Enzymaktivität des Branchingenzyms ein Screening-Test durchgeführt.
openaire   +1 more source

SYSTEMIC PROGRESSION OF TYPE IV GLYCOGEN STORAGE DISEASE (GSD IV) AFTER LIVER TRANSPLANTATION (OLT)

Journal of Pediatric Gastroenterology and Nutrition, 1995
V Marchand, F Alvarez, A Rasquin‐Weber, H Blanchard, E Seidman, K Paradis   +5 more
openaire   +1 more source

A Mouse Model Of Adult Polyglucosan Body Disease (APBD), A Late Onset Variant Of Glycogen Storage Disease Type IV (GSD IV). (P1.054)

Neurology, 2014
Hasan Akman, Valentina Emmanuele, Sindu Krishna, Salvatore DiMauro   +3 more
openaire   +1 more source

Characterization of liver GSD IX γ2 pathophysiology in a novel Phkg2/ mouse model

Molecular Genetics and Metabolism, 2021
Aravind Asokan, Priya Kishnani, Baodong Sun   +2 more
exaly  

SN 2016gsd: an unusually luminous and linear Type II supernova with high velocities

Monthly Notices of the Royal Astronomical Society, 2020
Rubina Kotak, Auni Somero
exaly  

Requirement change management challenges in GSD: An analytical hierarchy process approach

Journal of Software: Evolution and Process, 2020
Sajjad Mahmood, Muhammad Azeem Akbar, Arif Ali Khan   +2 more
exaly  

Applying Q-methodology to analyse the success factors in GSD

Information and Software Technology, 2013
Felix Garcia, Aurora Vizcaino, Mario Piattini   +2 more
exaly  

Renal endoplasmic reticulum stress is coupled to impaired autophagy in a mouse model of GSD Ia

Molecular Genetics and Metabolism, 2017
Boon Huat Bay, Yajun Wu, Paul M Yen
exaly