Results 231 to 240 of about 20,142 (302)

Targeting Lysine α-Ketoglutarate Reductase to Treat Pyridoxine-Dependent Epilepsy. [PDF]

J Neurosci
Liang Z, Wu J, Liu Q, Qin D, Wang M, Zhong X, Guo W.   +6 more
europepmc   +1 more source

Branched-chain amino acid transferase type 2 (BCAT2) deficiency: Report of an eighth case and literature review. [PDF]

Mol Genet Metab Rep
Mondésert E, Bouchereau J, Schiff M, Benoist JF, Barcia G, Keren B, Mannes I, Pontoizeau C, Mansat C, Imbard A.   +9 more
europepmc   +1 more source

A pedigree with homocystinuria caused by a novel homozygous CBS gene mutation: A case report. [PDF]

J Int Med Res
Xu X, He Z, Shen Y, Zhao J, Geng Y.
europepmc   +1 more source

Metabolic characteristics related to potentially toxic elements in the blood of young adults in China: a cross-sectional study. [PDF]

Front Nutr
Zhang L, Xu W, Feng M, Zhang J, Wang Z, Kang W, Liu Y, Yang B, Guo Y, Lu P.   +9 more
europepmc   +1 more source

Emergency Management of Intoxication-Type Inherited Metabolic Disorders. [PDF]

J Inherit Metab Dis
Tarr JD, Morris AAM.
europepmc   +1 more source

Broad Vitamin B₆-Related Metabolic Disturbances in a Zebrafish Model of Hypophosphatasia (TNSALP-Deficiency). [PDF]

Int J Mol Sci
Ciapaite J, Albersen M, Savelberg SMC, Bosma M, Meijer NWF, Tessadori F, Bakkers JPW, van Haaften G, Jans JJ, Verhoeven-Duif NM.   +9 more
europepmc   +1 more source

Vitamins formed by microorganisms in fermented foods: effects on human vitamin status-a systematic narrative review. [PDF]

Front Nutr
Keyvan E, Adesemoye E, Champomier-Vergès MC, Chanséaume-Bussiere E, Mardon J, Nikolovska Nedelkoska D, Palamutoglu R, Russo P, Sarand I, Songre-Ouattara L, Trajkovska B, Karakaya S, Syrpas M, Chassard C, Pracer S, Vergères G, Heine D, Humblot C.   +17 more
europepmc   +1 more source