Results 111 to 120 of about 115,827,059 (170)

Adult-Onset Hyperammonemia: Case Report and Review of Literature. [PDF]

Case Rep Gastroenterol
Naseem Z, Alenchery A, Kim SY, Sims OT, Radhakrishnan K, Laique SN.   +5 more
europepmc   +1 more source

Hyperammonemia-Associated Stroke-Like Episodes and Acute Liver Failure in an 11-Month-Old Infant With Probable Ornithine Transcarbamylase Deficiency: Diagnostic and Therapeutic Challenges in a Resource-Limited Setting. [PDF]

Cureus
Zahiri H, Naimi F, Elouali A, Babakhouya A, Rkain M.   +4 more
europepmc   +1 more source

The Spanish Uniform Newborn Screening Panel (SUSP): A National Consensus Framework for Harmonized Newborn Screening. [PDF]

Int J Neonatal Screen
García-Villoria J, López-Galera RM, Delgado-Pecellín C, Rausell Félix D, Colón C, Rocha H, Pérez B, Ribes A, Couce ML, González-Lamuño D, Neonatal Screening Working Group of AECOM.   +10 more
europepmc   +1 more source

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

Case Report: From coma to genetic insights: identification of a novel pathogenic variant in Chinese neonatal CTLN1. [PDF]

Front Pediatr
Deng L, Liu Y, Chen K, Qiu J, Chang L, Xia J, Wang Y.   +6 more
europepmc   +1 more source

Diagnostic yield and genetic landscape of rare pediatric diseases in Vietnam identified by exome sequencing. [PDF]

Sci Rep
Lu YT, Tran UV, Tran HT, Nguyen TL, Nguyen TM, Vu CD, Ta TA, Nguyen TT, Hoang LP, Pham AN, Vu PM, Cam PN, Dao Thi T, Nguyen KT, Nguyen TL, Tran KT, Nguyen KV, Nguyen YN, Le LT, Do TT, Nguyen HN, Hoang TN, Giang H, Tang HS.   +23 more
europepmc   +1 more source

Spectrum of inherited metabolic disorders diagnosed through newborn screening and symptomatic referrals in Eastern Türkiye. [PDF]

Mol Genet Metab Rep
Arslan S, Ekinci Uğan F, Yaralı O, Kahveci H.   +3 more
europepmc   +1 more source

Health-Related Coping Behaviors Among Parents of Children with Inborn Errors of Metabolism: A Survey by Dietary Therapy, Child Age, and Diagnostic Category. [PDF]

Int J Neonatal Screen
Matsumoto Y, Kushihashi Y, Suwa A, Tajima G.   +3 more
europepmc   +1 more source

A multiplexed LC-MS/MS assay for comprehensive screening of amino acid metabolism disorders. [PDF]

Talanta Open
Chandran J, Ramarajan MG, Nanjundagowda VK, Gowdra A, Warade J, Bellad A, Rangiah K.   +6 more
europepmc   +1 more source

Primary sclerosing cholangitis complicated with ulcerative colitis and double gene mutations of UGT1A1 and SLC25A13: a case report. [PDF]

Front Med (Lausanne)
Shi Y, Chen K, Ye J, Yang M.
europepmc   +1 more source