Results 271 to 280 of about 56,617 (329)

Perioperative management of pediatric patients with inborn errors of metabolism during liver transplantation. [PDF]

World J Transplant
Paulin S, Rajakumar A, Menon J, Shanmugam N, Rela M.   +4 more
europepmc   +1 more source

Guidance for Home Enzyme Replacement Therapy in Children and Adolescents Diagnosed with Mucopolysaccharidoses: A Scoping Review Protocol. [PDF]

Int J Environ Res Public Health
Oliveira VR, Martins YNF, Araújo JIF, Silva EFD, Fuentes MB, Oliveira JSA.   +5 more
europepmc   +1 more source

Genetic Modeling of Lysosomal Storage Disorders (LSDs) in the Brain-Midgut Axis of <i>Drosophila melanogaster</i> During Aging. [PDF]

Cells
Markaki SP, Kiose NM, Charitopoulou ZA, Kougioumtzoglou S, Velentzas AD, Stravopodis DJ.   +5 more
europepmc   +1 more source

An overview on cardiac involvement in Inborn Errors of Metabolism: from clinical clues to nutritional management strategies. [PDF]

Front Cardiovasc Med
Montanari C, Tagi VM, Tosi M, Stucchi E, Pisano EM, Raso I, Fini G, Fiori L, Mannarino S, Zuccotti G, Verduci E.   +10 more
europepmc   +1 more source

Epigenetic modulation of the gut-muscle axis in pompe disease: Microbiota fingerprints to cellular and molecular pathomechanisms. [PDF]

Mol Metab
Venezia M, Russo M, Colomba P, Zizzo C, Vinci M, Marsana EM, D'Errico A, Giacalone I, Duro G, Moschetti M.   +9 more
europepmc   +1 more source

Rising Inpatient Demands for Inherited Metabolic Disorders: Impact on Pediatric Capacity

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1423-1426, June 2026.
Maria Paula Silva, Kirsten Havens, Katherine Arduini, Anne Kozek, Erika Vucko, Joel Charrow, Joshua Baker, Carlos E. Prada   +7 more
wiley   +1 more source

Monoclonal Gammopathy of Clinical Significance-Associated Glycogen Storage Myopathy: A Novel Acquired Muscle Disease. [PDF]

Cureus
Belkhribchia MR, Toua T, Lobrinus JA, Vallat JM, Salmaoui J.   +4 more
europepmc   +1 more source

Investigation of mutations responsible for glycogen storage disease type-II and congenital myasthenic syndrome in Brazilian Brahman Cattle

, 2017
Anelize de Souza Trecenti
openalex   +1 more source

Some of the next articles are maybe not open access.

Related searches:

Enzyme patterns in glycogen storage disease type II (Pompe's disease)

Metabolism, 1966
Abstract A case of type II glycogen storage disease was biochemically diagnosed during life. Heart and skeletal muscle, and the glia and neurons of the central nervous system showed remarkable change, presumably the result of glycogen deposition. A virtual absence of α-glucosidase was observed in heart and skeletal muscle, liver, thyroid and adrenal ...
G, Mekanik, R L, Smith, R M, MacLeod
openaire   +2 more sources