Results 51 to 60 of about 8,969 (140)

Holocarboxylase Synthetase Deficiency: A Second Case Report With Neonatal Cholestatic Liver Disease. [PDF]

JIMD Rep
Manoy S, Murray C, Lynch M, Minto T, Choo K, Bursle C, Lipke M, McGill J, Inwood A, Coman D.   +9 more
europepmc   +1 more source

Non-invasive biomarkers for diagnosis and monitoring of primary mitochondrial diseases. [PDF]

J Neurol
Arena IG, Saravanabavan S, Horvath R, van den Ameele J.   +3 more
europepmc   +1 more source

181: A patient with pyruvate carboxylase deficiency

Pediatric Research, 1976
J. Biervliet, S. K. Wadman, L. Monnens, J. Willems   +3 more
semanticscholar   +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

The ketogenic diet is not for everyone: contraindications, side effects, and drug interactions. [PDF]

Ann Med
Dyńka D, Rodzeń Ł, Rodzeń M, Łojko D, Karakuła-Juchnowicz H, Ede G, Grzywacz Ż, Antosik K, Sethi S, Unwin D.   +9 more
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

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

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

Obesity-derived metabolites modulate anti-tumor immunity in the tumor microenvironment: from mechanisms to clinical applications. [PDF]

BMC Med
Cai Y, Jin J, Wang Y, Han D, Yu X, Jin F, Li M, Li Y, Li X.   +8 more
europepmc   +1 more source