Results 81 to 90 of about 13,556 (147)

EFSA NDA Panel (EFSA Panel on Dietetic Products, Nutrition and Allergies), 2014. Scientific Opinion on Dietary Reference Values for biotin [PDF]

, 2014

core   +1 more source

Clinical and genetic analysis of four Chinese patients with holocarboxylase synthetase deficiency and metabolic acidosis. [PDF]

Orphanet J Rare Dis
Zheng Z, Peng W, Lin Y, Lin W, Wang G.
europepmc   +1 more source

The Usefulness of Basic Laboratory Analyses in Diagnostics of Inherited Metabolic Diseases in Children. [PDF]

Diagnostics (Basel)
Lipiński P, Doroba A.
europepmc   +1 more source

Neonatal Presentation of a Case of Carbonic Anhydrase VA Deficiency. [PDF]

Cureus
Baheer Abdulwahhab S, Ahmed A, Ben Omran T.   +2 more
europepmc   +1 more source

Expert consensus on the combined screening of genes and biomarkers for neonatal diseases. [PDF]

World J Pediatr
Huang XW, Zhang T, Hu ZZ, Wang ZG, Luo XP, Yang YL, Han LS, Gu XF, Xiao GR, Zhu BS, Yang RL, Wang WP, Huang YL, Jiang JH, Wang H, Tian GL, Sun QL, Mao XM, Yu B, Zhu WB, Chen PL, Hu HL, Yan HM, Liu J, Nie WY, Wang F, Cai R, Jiang T, Wang XH, Xu FL, Zhou YL, Yang JP, Zou L, Wen W, Kong YY, Ou MC, Zhang YG, Ying YQ, Qiang R, Zhao DH, Jia CL, Zhang ZX, Wu BQ, Zou H, Zhao ZY.   +44 more
europepmc   +1 more source

Inherited metabolic disorders: presentation, clinical types, laboratory diagnosis and genetic markers. [PDF]

Orphanet J Rare Dis
Ijaz A, Abbas S, Shabbir M, Badshah Y, Abid F, Afsar T, Razak S.   +6 more
europepmc   +1 more source

Biotin in progressive multiple sclerosis – a new lead? [PDF]

, 2016
Chataway, J
core   +1 more source

Sturge-Weber syndrome type III in pediatrics: a case report. [PDF]

Front Radiol
Lin H, Wang X, Fan J.
europepmc   +1 more source

Revisiting the role of metabolic reprogramming as a contributor to prostate cancer disease progression. [PDF]

Chin Med J (Engl)
Ding H, Meng Q, Zhou J, Chen L, Huang J, Zhao B, Xu L.   +6 more
europepmc   +1 more source

Myoclonus in Pediatric Metabolic Diseases: Clinical Spectrum, Mechanisms, and Treatable Causes-A Systematic Review. [PDF]

Metabolites
Majewska E, Zdort Z, Ochocka A, Paprocka J.   +3 more
europepmc   +1 more source