Results 131 to 140 of about 22,929 (214)

Implementing and validating newborn screening for inborn errors of metabolism in South India: a 2-year observational study at a tertiary care hospital. [PDF]

BMJ Public Health
Chikkalingaiah MH, Bevinakoppamath S, Archana SS, Kapa A, Kempegowda SN, Shivashankar KK, Ramachandra SC, K Basavarajaiah S, Nataraj S, Prashant A.   +9 more
europepmc   +1 more source

An evaluation of untargeted metabolomics methods to characterize inborn errors of metabolism. [PDF]

Mol Genet Metab
Wurth R, Turgeon C, Stander Z, Oglesbee D.   +3 more
europepmc   +1 more source

Corrigendum: Disease spectrum, prevalence, genetic characteristics of inborn errors of metabolism in 21,840 hospitalized infants in Chongqing, China, 2017-2022. [PDF]

Front Genet
Wang D, Zhang J, Yang R, Zhang D, Wang M, Yu C, Yang J, Huang W, Liu S, Tang S, He X.   +10 more
europepmc   +1 more source

A novel, high throughput, and low-cost method for the detection of 40 amines relevant to inborn errors of metabolism, in under 60 min, using reverse phase high performance liquid chromatography. [PDF]

Mol Genet Metab Rep
Wilson KA, Zhou Y, Cunningham G, Chapman K, Summar M, Regier D.   +5 more
europepmc   +1 more source

P679: Functional studies in fibroblasts cultured from patients with inborn errors of vitamin B12 metabolism [PDF]

Brian M. Gilfix, David Watkins, David S. Rosenblatt   +2 more
openalex   +1 more source

A newborn Screening Programme for Inborn errors of metabolism in Galicia: 22 years of evaluation and follow-up. [PDF]

Orphanet J Rare Dis
Couce ML, Bóveda MD, Castiñeiras DE, Vázquez-Mosquera ME, Barbosa-Gouveia S, De Castro MJ, Iglesias-Rodríguez AJ, Colón C, Cocho JA, Sánchez P.   +9 more
europepmc   +1 more source

Kidney Replacement Therapy and Mortality in Children With Inborn Errors of Metabolism: A Meta-analysis. [PDF]

Kidney Med
Raina R, Doshi K, Sethi S, Pember B, Kumar R, Alhasan KA, Boshkos MC, Tibrewal A, Bedoyan JK.   +8 more
europepmc   +1 more source

A multiomic network approach uncovers disease modifying mechanisms of inborn errors of metabolism

Bender A, Ranea-Robles P, Williams EG, Mirzaian M, Heimel JA, Levelt CN, Wanders RJ, Aerts JM, Zhu J, Auwerx J, Houten SM, Argmann CA.   +11 more
europepmc   +1 more source

Incidence of Inborn Errors of Metabolism and Endocrine Disorders Among 40965 Newborn Infants at Riyadh Second Health Cluster of the Ministry of Health Saudi Arabia. [PDF]

Int J Neonatal Screen
Alshehri AS, Peer-Zada AA, Algadhi AA, Aldehaimi A, Saleh MA, Mushiba AM, Faqeih EA, AlAsmari AM.   +7 more
europepmc   +1 more source

Inborn errors of metabolism (IEM): a general overview

, 2011
Michel Ritenuti
openalex   +1 more source