Results 171 to 180 of about 17,750 (254)

Metabolomic profiling in phenylketonuria: a systematic review of human studies. [PDF]

Metabolomics
Gonzalez-Rodriguez A, Urpi-Sarda M, Barrau-Martinez B, Campins-Machado FM, Bakkali-Aissaoui H, Pané A, Moreno PJ, Ortega E, Garcia-Villoria J, Ormazabal A, Garcia-Arenas D, Junqué C, Garrabou G, Llorach R, Consortium PKU.cat.   +14 more
europepmc   +1 more source

Lipidomic Signatures in Pediatric Metabolic Disorders. [PDF]

Metabolites
Narvaez-Rivas M, Setchell KDR.
europepmc   +1 more source

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

The kidney in genetic metabolic disorders. [PDF]

Med Genet
Schultheiss UT, Schumann A.
europepmc   +1 more source

Nerve growth factor (NGF) [PDF]

, 1989
Azzi, Angelo, Borasio, Gian Domenico, Drahota, S., Heumann, R., Lindholm, D., Papa, S., Thoenen, Hans   +6 more
core  

"Why won't the ammonia go down?": ammonia management while on continuous kidney replacement therapy. [PDF]

Pediatr Nephrol
Starr MC, Burnham J, Voivoidas M, Wilson A.   +3 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

Full recovery of vision following early and intensive hemodialysis in an 18-year-old woman with methylmalonic acidemia-related optic neuropathy. [PDF]

Mol Genet Metab Rep
Guertin A, Khanna RK, Tardieu M, François M, Blasco H, de Bretagne IB, Benoist JF, Bigot A, Tressel N, Maillot F, Labarthe F.   +10 more
europepmc   +1 more source

Prenatal Diagnosis of Dihydropteridine Reductase Deficiency in a Twin Pregnancy [PDF]

, 2017
Binkert, F., Blau, N., Guardamagna, O., Kierat, L., Matasovic, A., Ponzone, A., Ponzone, R., Spada, M., Viora, E.   +8 more
core