Results 121 to 130 of about 19,497 (183)

Adipose transplant for inborn errors of branched chain amino acid metabolism in mice.

Molecular Genetics and Metabolism, 2013
Heather A Zimmerman, Kristine C Olson, Gang Chen, C. Lynch   +3 more
semanticscholar   +1 more source

Glycerophospholipids: Roles in Cell Trafficking and Associated Inborn Errors. [PDF]

J Inherit Metab Dis
Lamari F, Rossignol F, Mitchell GA.
europepmc   +1 more source

Methylmalonic acidemia with recurrent hemophagocytic lymphohistiocytosis: a case report and review of the literature. [PDF]

BMC Pediatr
Yamashita F, Akamine S, Chong PF, Maeda K, Kawakami S, Lee S, Ishimura M, Murayama K, Sakai Y, Kira R.   +9 more
europepmc   +1 more source

Propionyl Carnitine Metabolic Profile: Optimizing the Newborn Screening Strategy Through Customized Cut-Offs. [PDF]

Metabolites
Tommolini ML, Cufaro MC, Valentinuzzi S, Cicalini I, Zucchelli M, Frisco A, Simonetti S, Perrone Donnorso M, Moccia S, Bucci I, Aricò M, De Laurenzi V, Federici L, Pieragostino D, Rossi C.   +14 more
europepmc   +1 more source

Coexistence of a Leaky SCID Phenotype With Hyperphenylalaninemia in an Adult Case. [PDF]

Case Reports Immunol
Musabak U, Erdogan T, Akcay MS, Ceylaner S.   +3 more
europepmc   +1 more source

The Establishment of Expanded Newborn Screening in Rural Areas of a Developing Country: A Model from Health Regions 7 and 8 in Thailand. [PDF]

Int J Neonatal Screen
Wichajarn K, Sawatjui N, Prasongdee P, Panklin A, Sornkayasit K, Chungkanchana N, Tessiri S, Wintachai P, Dechyotin S, Pasomboon C, Ratanapontee J, Thanakitsuwan S, Rattanathongkom A.   +12 more
europepmc   +1 more source

Excretion of organic acids associated with biotin deficiency in chronic anticonvulsant therapy [PDF]

, 1984
Berlit, Peter, Bonjour, Jean-Pierre, Kochen, W., Krause, Klaus-Henning   +3 more
core  

Tandem mass spectrometry in screening for inborn errors of metabolism: comprehensive bibliometric analysis. [PDF]

Front Pediatr
Kononets V, Zharmakhanova G, Balmagambetova S, Syrlybayeva L, Berdesheva G, Zhussupova Z, Tautanova A, Kurmambayev Y.   +7 more
europepmc   +1 more source

A Case of Hyperammonemia Not Attributable to Liver Disease and Treated With IV Ammonia Scavengers. [PDF]

Cureus
Thomas J, George A, Mrittika S, Ahmad B, Wilcox G.   +4 more
europepmc   +1 more source

A National Assessment of the Newborn Screening Workforce for Metabolic Conditions, Phase Two Report [PDF]

, 2012
McGrath, Robert J., Stransky, Michelle L.   +1 more
core   +1 more source