Results 71 to 80 of about 458 (127)

The Pivotal Role of Thiamine Supplementation in Counteracting Cardiometabolic Dysfunctions Associated with Thiamine Deficiency. [PDF]

Int J Mol Sci
Ritorto G, Ussia S, Mollace R, Serra M, Tavernese A, Palma E, Muscoli C, Mollace V, Macrì R.   +8 more
europepmc   +1 more source

Transporters in vitamin uptake and cellular metabolism: impacts on health and disease. [PDF]

Life Metab
Yuan Y, Chen L.
europepmc   +1 more source

Localization of the gene for thiamine-responsive megaloblastic anemia syndrome, on the long arm of chromosome 1, by homozygosity mapping. [PDF]

Am J Hum Genet, 1997
Neufeld EJ, Mandel H, Raz T, Szargel R, Yandava CN, Stagg A, Fauré S, Barrett T, Buist N, Cohen N.   +9 more
europepmc   +1 more source

Neonatal and Syndromic Forms of Diabetes. [PDF]

Curr Diab Rep
Gobble MRS, Stone SI.
europepmc   +1 more source

Vitamin B12 responsive developmental and epileptic encephalopathy due to a novel mutation in the FUT2 gene: a case report. [PDF]

BMC Pediatr
Bandara P, Wijenayake W, Fernando S, Padeniya P, Mettananda S.   +4 more
europepmc   +1 more source

Blood cytopenias as manifestations of inherited metabolic diseases: a narrative review. [PDF]

Orphanet J Rare Dis
Moutapam-Ngamby-Adriaansen Y, Maillot F, Labarthe F, Lioger B.   +3 more
europepmc   +1 more source

Water-Soluble Vitamins: Hypo- and Hypervitaminosis in Pediatric Population. [PDF]

Pharmaceutics
Paparella R, Panvino F, Leonardi L, Pucarelli I, Menghi M, Micangeli G, Tarani F, Niceta M, Rasio D, Pancheva R, Fiore M, Tarani L.   +11 more
europepmc   +1 more source

Endocrine system disturbances in children with inherited metabolic diseases: a narrative review. [PDF]

Front Endocrinol (Lausanne)
Tagi VM, Fiori L, Montanari C, Tonduti D, Ferrario M, Gambino M, Greco IP, Cecchini A, Calcaterra V, Zuccotti G, Verduci E.   +10 more
europepmc   +1 more source

Precision diagnosis and treatment of vitamin metabolism-related epilepsy. [PDF]

Acta Epileptol
Gan Y, Li G, Wei Z, Feng Y, Shi Y, Deng Y.   +5 more
europepmc   +1 more source