Results 41 to 50 of about 9,712 (86)

Editorial: Inborn errors of carbohydrate metabolism volume II. [PDF]

Front Genet
García-Ortíz JE, Doederlein-Schwartz IV, Abreu-González M, Martínez-Duncker I.   +3 more
europepmc   +1 more source

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

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

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

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

Saudi J Gastroenterol
Vara R, Hadzic N.
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

Genetic Mutations Underlying Growth Impairment and Cardiomyopathies in Children: Molecular Mechanisms, Clinical Implications and Targeted Therapies. [PDF]

Genes (Basel)
Dicorato MM, De Sario G, Carella MC, Guaricci AI, Ciccone MM, Forleo C, D'Amato G, Faienza MF.   +7 more
europepmc   +1 more source

Prospective gait analysis in patients from the French registry of glycogen storage disease type III: implications for clinical trials. [PDF]

J Neurol
Hogrel JY, Fer F, Ledoux I, Petit F, Darce-Bello M, Labrune P, Wahbi K, Habes D, Gardin A, Masingue M, Laforêt P, Decostre V.   +11 more
europepmc   +1 more source

Hepatic glycogen storage disease: Deciphering the genotype-phenotype conundrum. [PDF]

World J Clin Pediatr
Samanta A, Ray G.
europepmc   +1 more source

Enhanced lysosomal glycogen breakdown is associated with liver tumorigenesis in glycogen storage disease type III. [PDF]

JHEP Rep
Montalvo-Romeral V, Jauze L, Perrot G, Amaouche M, Gardin A, Aguilar González A, Leblond A, Zitoun-Ardon C, Evrard F, Cosette J, Tatout C, Bordier F, Bertil-Froidevaux E, Georger C, van Wittenberghe L, Paradis V, Gay S, Dujardin F, Maillot F, Gautier-Stein A, Mithieux G, Malfatti E, Mussini C, Labrune P, Mayeuf-Louchart A, Ronzitti G, Rajas F.   +26 more
europepmc   +1 more source