Results 211 to 220 of about 74,859 (354)

Glycogen storage disease in two sisters: A case report. [PDF]

Clin Case Rep, 2023
Twanabasu S, Duwadee P, Homagain S, Ghimire J, Rijal RC.   +4 more
europepmc   +1 more source

Correction of neutropenia by portacaval shunt in type IB glycogen storage disease

, 1982
L Corbeel, Mc. Everaerts, Greet Van den Berghe   +2 more
openalex   +1 more source

Prenatal Diagnosis of Glycogen Storage Disease Type II: Enzyme Assay or Mutation Analysis? [PDF]

, 1995
Wim J. Kleijer, Magna Van der Kraan, Marian A. Kroos, J.E.M. Groener, Otto P. van Diggelen, Arnold Reuser, Ans T. van der Ploeg   +6 more
openalex   +1 more source

Starch Allowance and Muscle Enzyme Activity in Healthy Standardbred Trotters Trained by Professional Trainers

Journal of Animal Physiology and Animal Nutrition, EarlyView.
ABSTRACT It is generally accepted that plasma muscle enzyme activity of creatine kinase (CK) and aspartate aminotransferase (AST) may increase in racehorses after exercise and racing, indicating muscle fibre damage and/or increased leakage from muscle fibres.
Malin Connysson, Anna Jansson
wiley   +1 more source

People and Families Affected by Glycogen Storage Disease Type Ia: An Analysis of Narrative Accounts Written by Individuals Living with GSDIa and Their Caregivers. [PDF]

J Health Econ Outcomes Res
Kruger E, de Freitas HM, Ferrecchia I, Gaydon M, Lloyd A.   +4 more
europepmc   +1 more source

Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling [PDF]

, 1999
M.G.E.M. Ausems, J. R. Verbiest, MMP Hermans, M.A. Kroos, F. A. Beemer, J.H.J. Wokke, L. Sandkuijl, A. J. J. Reuser, A. van der Ploeg   +8 more
openalex   +1 more source

Integrative Genomics Refines Tissues, Candidate Genes and Putative Regulatory Links Involved in the Humic Adaptation of Keystone Freshwater Fish

Molecular Ecology, EarlyView.
ABSTRACT Although population genomics approaches have been successful in identifying regions of the genome shaped by natural selection, progress in dissecting the molecular mechanisms of adaptive variants and traits has been slow. By integrating multi‐tissue (gill, spleen, olfactory rosette, whole eye, and liver) transcriptomes from 16 wild Eurasian ...
M. Yu. Ozerov, K. Noreikiene, K. Taube, R. Gross, A. Vasemägi   +4 more
wiley   +1 more source

Safety and Efficacy of DTX401, an AAV8-Mediated Liver-Directed Gene Therapy, in Adults With Glycogen Storage Disease Type I a (GSDIa). [PDF]

J Inherit Metab Dis
Weinstein DA, Derks TG, Rodriguez-Buritica DF, Ahmad A, Couce ML, Mitchell JJ, Riba-Wolman R, Mount M, Sallago JB, Ross KM, van der Klauw MM, de Boer F, van der Schaaf C, Saavedra H, Martínez-Olmos M, Atanga E, Hosseini A, Mitragotri D, Crombez E.   +18 more
europepmc   +1 more source

A CASE OF GLYCOGEN STORAGE DISESE TYPE Ia (von GIERKE'S DISEASE) WITH TRANSIENT TSH DEFICIENCY

, 1981
Masafumi Kitaoka, Makoto NAKAZONO, Kazuo Takebe, Akio Kitahara   +3 more
openalex   +2 more sources

Adenovirus-Mediated Transfer of the Acid -Glucosidase Gene into Fibroblasts, Myoblasts and Myotubes from Patients with Glycogen Storage Disease Type II Leads to High Level Expression of Enzyme and Corrects Glycogen Accumulation [PDF]

, 1998
Marc Nicolino, J. Puech, Eric J. Kremer, Arnold Reuser, Corinne Mbebi, Martine Verdière‐Sahuqué, A Kahn, Livia Poënaru   +7 more
openalex   +1 more source