Results 11 to 20 of about 575 (74)

Clinical and biochemical footprints of inherited metabolic diseases. XIV. Metabolic kidney diseases. [PDF]

Mol Genet Metab, 2023
Schumann A, Schultheiss UT, Ferreira CR, Blau N.   +3 more
europepmc   +1 more source

Treatable Neonatal Molybdenum Cofactor Deficiency: Rapid Demise Despite Rapid Biochemical Diagnosis. [PDF]

JIMD Rep
Crenshaw MM, Midgette Y, Mohan S, Wei R, Anneling M, Williams M, Patel M, Cocanougher BT, Young SP, Niyazov D, El-Gharbawy A, Stiles AR.   +11 more
europepmc   +1 more source

PAX3-FOXO1 Drives Targetable Cell State-Dependent Metabolic Vulnerabilities in Rhabdomyosarcoma. [PDF]

Cancer Res
Paras KI, Brunner JS, Montero AM, Boyer JA, Jackson BT, Chakraborty S, Xie A, Guillan K, Siddiquee A, Pajuelo Torres L, Rabinowitz JD, Kung AL, You D, Dela Cruz FS, Finley LWS.   +14 more
europepmc   +1 more source

Insights from Metabolomics Profiling of MSUD in Pediatrics Toward Disease Progression. [PDF]

Metabolites
Alotaibi AZ, AlMalki RH, Sebaa R, Al Mogren M, Alanazi M, Sumaily KM, Alodaib A, Mujamammi AH, Jacob M, Sabi EM, Alfares A, Abdel Rahman AM.   +11 more
europepmc   +1 more source

Safety of COVID-19 vaccines in children with inborn errors of metabolism in terms of developing metabolic decompensation. [PDF]

J Paediatr Child Health, 2023
Zubarioglu T, Oral-Cebeci S, Hopurcuoglu D, Uygur E, Ahmadzada S, Uzunyayla-Inci G, Oge-Enver E, Akca S, Aghalarov M, Yilmaz G, Kiykim E, Aktuglu-Zeybek C.   +11 more
europepmc   +1 more source

Plasma Metabolic Outliers Identified in Estonian Human Knockouts. [PDF]

Metabolites
Yu K, Estonian Biobank Research Team, Estrada K, Esko T, Kals M, Nikopensius T, Kronberg J, Võsa U, Wuster A, Bomba L.   +9 more
europepmc   +1 more source

Increased renal elimination of endogenous and synthetic pyrimidine nucleosides in concentrative nucleoside transporter 1 deficient mice. [PDF]

Nat Commun, 2023
Persaud AK, Bernier MC, Massey MA, Agrawal S, Kaur T, Nayak D, Xie Z, Weadick B, Raj R, Hill K, Abbott N, Joshi A, Anabtawi N, Bryant C, Somogyi A, Cruz-Monserrate Z, Amari F, Coppola V, Sparreboom A, Baker SD, Unadkat JD, Phelps MA, Govindarajan R.   +22 more
europepmc   +1 more source

Adenylosuccinate synthetase deficiency and purine nucleotide cycle disruption impair neuromuscular function in Caenorhabditis elegans. [PDF]

Mol Genet Metab
Patil RR, Franklin LP, Jin MD, Hanna-Rose W.   +3 more
europepmc   +1 more source

Selective screening for inborn errors of metabolism using tandem mass spectrometry in West Kazakhstan children: study protocol. [PDF]

Front Genet, 2023
Zharmakhanova G, Kononets V, Balmagambetova S, Syrlybayeva L, Nurbaulina E, Zhussupova Z, Sakhanova S, Ayaganov D, Kim S, Zhumalina A.   +9 more
europepmc   +1 more source

Updated Gene Therapy for Renal Inborn Errors of Metabolism. [PDF]

Genes (Basel)
Hergenrother S, Husein M, Thompson C, Kalina E, Raina R.   +4 more
europepmc   +1 more source