Results 181 to 190 of about 13,856,572 (229)

Identification of alterations of immunometabolism associated with Pompe disease. [PDF]

Cell Mol Life Sci
Costa-Verdera H, Gargaro M, Cagin U, Manni G, Scalisi G, Veron P, Silva Barcelos EC, Pieroni B, Mencarelli G, Ricciuti D, Nemazanyy I, Sanatine P, van Wittenberghe L, Laforêt P, Gross DA, Ronzitti G, Fallarino F, Mingozzi F.   +17 more
europepmc   +1 more source

Cross-talk between glycosylation pathways: Mechanistic insights and implications for human diseases. [PDF]

Mol Metab
Very N, El Yazidi-Belkoura I.
europepmc   +1 more source

Metabolic buffering restricts phenotype switching in melanoma. [PDF]

EMBO J
Ramírez-Sánchez A, Jociles-Ortega M, García-Martínez JM, Torrens-Martínez I, Martínez-Useros J, Louphrasitthiphol P, Sweeney MI, Morente-Carrasco A, Ruiz-Reyes S, Redondo-Díaz N, Olmos-De Blas T, Fernández-Aceñero MJ, Rodriguez-López JN, Soga T, White RM, Goding CR, Sanchez-Del-Campo L, García-Jiménez C, Chocarro-Calvo A.   +18 more
europepmc   +1 more source

Clinical and genetic analyses of 17 Chinese patients with glycogen storage disease type IXc. [PDF]

Orphanet J Rare Dis
Sun C, Du T, Xia Y, Jiang L, Sun M, Liang L, Zhang K, Yang Y, Sun Y, Wang R, Sun Y, Xiao B, Qiu W.   +12 more
europepmc   +1 more source

Pediatric liver transplantation for inherited metabolic disease-Current challenges. [PDF]

Saudi J Gastroenterol
Vara R, Hadzic N.
europepmc   +1 more source

Managing Pregnancy in Inherited Metabolic Disorders: Experience From a Single Tertiary Metabolic Center. [PDF]

J Obstet Gynaecol Res
İşler-Soylu E, Zubarioglu T, Uygur E, Aras-Çöl T, Babazade-Aghakishili H, Çalışgan K, Kıykım E, Aktuğlu-Zeybek Ç.   +7 more
europepmc   +1 more source

Rhabdomyolysis: a narrative review. [PDF]

Arq Neuropsiquiatr
Tengan CH, Oliveira ASB, Carvalho AAS, Souza CDS, Sobreira CFDR, Zanoteli E, Silva HCAD.   +6 more
europepmc   +1 more source

Some of the next articles are maybe not open access.

Related searches:

A neonatal form of glycogen storage disease type IV

Neurology, 2003
We report of an infant with neonatal glycogen storage disease type IV (GSD IV) who was examined for severe hypotonia and cardiomyopathy. On the muscle biopsy there were many fibers with diastase-resistant polyglucosan bodies. Glycogen branching enzyme (GBE1) activity in the muscle was markedly reduced.
M, Nambu, K, Kawabe, T, Fukuda, T B, Okuno, S, Ohta, I, Nonaka, H, Sugie, I, Nishino   +7 more
openaire   +2 more sources

Glycogen storage disease type IV presenting as hydrops fetalis

Journal of Inherited Metabolic Disease, 1999
Glycogen storage disease type IV (McKusick 232500; branching enzyme deficiency, GSD IV) is an autosomal recessive disorder exceptionally diagnosed at birth. Among the typical features of this disease is a severe hypotonia. The pathological study of body tissues shows PAS-positive cellular storage material, sometimes with birefringent crystals under ...
A, Alegria, E, Martins, M, Dias, A, Cunha, M L, Cardoso, I, Maire   +5 more
openaire   +2 more sources