Results 151 to 160 of about 2,017,541 (209)

Towards Next-Generation Sequencing as a First-Tier Diagnostic Test for Fructose-1,6-Bisphosphatase Deficiency. [PDF]

Metabolites
Yazbeck N, Barhoumi A, Karam PE.
europepmc   +1 more source

Anyagcsere betegségek újszülöttkori szűrése és klinikai jellemzőik [PDF]

, 2011
Baráth Ákos, Gellén Balázs, Görög Marietta, Karg Eszter, Monostori Péter, Papp Ferenc, Rózsa Melinda, Túri Sándor, Wittmann Gyula   +8 more
core  

Expanded Newborn Screening for Inborn Errors of Metabolism at a Single Center in Louisiana (2005-2024): Outcomes. [PDF]

Int J Neonatal Screen
Upadia J, Noh G, Crivelly K, Aziz E, Cunningham A, Andersson HC.   +5 more
europepmc   +1 more source

Inhibition of mitochondrial carbamyl phosphate synthetase in rat and human liver by ACYL CoA esters : a possible mechanism for hyperammonemia in the inherited organic acidemias [PDF]

, 1981
Gruskay, Jeffrey Alan
core   +1 more source

An overview on cardiac involvement in Inborn Errors of Metabolism: from clinical clues to nutritional management strategies. [PDF]

Front Cardiovasc Med
Montanari C, Tagi VM, Tosi M, Stucchi E, Pisano EM, Raso I, Fini G, Fiori L, Mannarino S, Zuccotti G, Verduci E.   +10 more
europepmc   +1 more source

Characterization of Treatment Utilization in a Metabolic Genetics Clinic. [PDF]

J Pediatr Pharmacol Ther
Riedy M, Briggs J, Huang T.
europepmc   +1 more source

Qatar's National Expanded Metabolic Newborn Screening Program: Incidence and Outcomes. [PDF]

Int J Neonatal Screen
Jamaleddin T, El-Akouri K, Abiib S, Mitri R, Ramaswamy M, Musa S, Ali R, Shahbeck N, Al Rifai H, Abdoh G, Ben-Omran T, Al-Dirbashi OY, Al-Shafai M.   +12 more
europepmc   +1 more source

Familial Hyperekplexia Caused by a Novel Homozygous <i>SLC6A5</i> Variant: A Case Report. [PDF]

Mol Syndromol
Yılmaz FH, Kahraman AB, Duymuş F, Koçak Eker H, Çelik H, Büyükeren M, Özcan B, Keçeci R.   +7 more
europepmc   +1 more source

Delayed Diagnosis of Glutaric Aciduria Type 1: A Case Report. [PDF]

Cureus
Larancuent CE, Weiler T, Kana SL.
europepmc   +1 more source