Results 51 to 60 of about 2,687 (100)

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

Glycine <i>N</i>-Acyltransferase Deficiency due to a Homozygous Nonsense Variant in the <i>GLYAT</i>: A Novel Inborn Error of Metabolism. [PDF]

JIMD Rep
Nourbakhsh M, Miryounesi M, Tale A, Karimzadeh P, Sadeghi H, Ghasemi MR, Alipour N, Pourbakhtyaran E, Hooman N, Razzaghy-Azar M, Nourbakhsh M, Klaas L, Schulke D, Sass JO.   +13 more
europepmc   +1 more source

Beyond BRUE (Brief Resolved Unexplained Event): Recurrent Unexplained Events Revealing Congenital Hyperinsulinism in Infancy. [PDF]

Cureus
Khan MA, Khan F, Chohan N, Alsamawi S.
europepmc   +1 more source

McArdle disease (Glycogen Storage Disease Type V) from an exercise physiology and biochemistry perspective: Important considerations for exercise and physical activity testing and data interpretation. [PDF]

Sports Med Health Sci
Torrens SL, Parr E, Robergs R, Nalos M, Phillips L, Finnigan P, Voermans N.   +6 more
europepmc   +1 more source

The inhibitors of 17β-HSD10: are they any good? [PDF]

RSC Chem Biol
Kwa E, Ogilvie CE, Kormos NC, Green AJE, Smith TK, Gunn-Moore FJ.   +5 more
europepmc   +1 more source

Red blood cell metabolism: a window on systems health towards clinical metabolomics. [PDF]

Curr Opin Hematol
D'Alessandro A.
europepmc   +1 more source

Early Mortalities From Inborn Errors of Metabolism Detected By Selective Screening in Malaysia. [PDF]

Sage Open Pediatr
Habib A, Abdul Malik NA, Abu Yamin AH, Abdul Rahman S, Apparow S, Wan Mahiyuddin WR, Yakob Y, Lock Hock N.   +7 more
europepmc   +1 more source

Amino Acid Metabolism in Liver Mitochondria: From Homeostasis to Disease. [PDF]

Metabolites
Erdal R, Birsoy K, Unlu G.
europepmc   +1 more source

Disorder of intracellular cobalamin metabolism: Importance of rapid diagnostic illustrated by a case report of early-onset methylmalonic aciduria and homocystinuria, cobalamin C type. [PDF]

Heliyon
Mondesert E, Baud B, Roubertie A, Benoist JF, Grillet PE, Cristol JP, Francois-Heude MC, Schiff M, Badiou S.   +8 more
europepmc   +1 more source