Results 101 to 110 of about 1,894 (150)

Implications of the FDA's new plausible mechanism framework for the development of a personalized in vivo prime editing platform. [PDF]

Am J Hum Genet
Feierman ER, Whittaker MN, Quigley A, Brooks DL, McVeigh P, Nan AX, Hsu A, Said H, Soliman OY, Giovenco R, Davidson BL, Alameh MG, Liu DR, Wang X, Musunuru K, Ahrens-Nicklas RC.   +15 more
europepmc   +1 more source

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

Hyperkinetic Movements in an Infant with Citrullinemia Type 1 [PDF]

Annals of Child Neurology
Somdattaa Ray
doaj   +1 more source

A Comprehensive Meta-Analytical Investigation into the Incidence of Neonatal Amino Acid Metabolic Disorders Across China. [PDF]

Int J Neonatal Screen
Yao Q, Huang S, Kong F, Wu M, Qiu X, Zhao P, Zeng Y, Luo J, Zhou J, Xu L.   +9 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

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

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

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

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

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