Results 91 to 100 of about 27,934,643 (129)

Recurrent Hyperammonemic Encephalopathy in Adults with Citrin Deficiency: A Case Report of Two Genetically Confirmed Cases. [PDF]

J Clin Med
Pham TNQ, Vo VH, Nguyen QH, Trinh TTT, Vo TD.   +4 more
europepmc   +1 more source

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

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

Sarcopenia in Pediatric Intoxication Type Inborn Errors of Metabolism: A Frequent and Underrecognized Condition. [PDF]

J Inherit Metab Dis
Veraldi S, Basso MS, Soglia G, Cirelli R, Spagnoletti G, Bernabei SM, Esposito A, Rizzo C, Cairoli S, Martinelli D, Monti L, Spada M, Pietrobattista A, Dionisi-Vici C.   +13 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

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

PET/CT and exome sequencing in late onset multiple acyl-CoA dehydrogenase deficiency: a case series and literature review. [PDF]

BMC Med Genomics
Lin DF, Sheng H, Qu Q, Liao ZT.
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