Results 191 to 200 of about 23,457 (249)

Concurrent Phenylalanine Hydroxylase-Related Disorder and Celiac: A Rare Co-occurrence With Implications for Clinical Management. [PDF]

Ann Intern Med Clin Cases
Jensen J, Merritt E, Olarewaju BA, Tejon JB, Asif MB, Lanpher BC, Osundiji MA.   +6 more
europepmc   +1 more source

A retrospective cross-sectional study on newborn screening and prevalence of disorders among UAE population. [PDF]

Front Pediatr
Shafique K, Raza A, Naushad A, Hussain F, Walid D, Wareth L, El-Hattab AW, Bedair RN, Al Dweik R, Sadier NS.   +9 more
europepmc   +1 more source

Health Outcomes of Patients with Distal Urea Cycle Disorders Detected by Newborn Screening: Data from the Spanish National Registry. [PDF]

Int J Neonatal Screen
Yahyaoui R, Quijada-Fraile P, Blasco-Alonso J, Vives I, Gil Ortega D, Couce ML, Sánchez-Pintos P, García Jiménez MC, Meavilla Olivas S, García Volpe C, de Los Santos Mercedes M, García-Cazorla Á, Felipe-Rucián A, Dougherty-de Miguel L, Morais López A, Bergua Martínez A, Andrade Guerrero JD, Stanescu S, Belanger A, Gil-Campos M, Comino Monroy MJ, Bellusci M, Pérez-Mohand P, Barrio-Carreras D, Pérez B, Martín-Hernández E.   +25 more
europepmc   +1 more source

A Young Man with Late-onset Ornithine Transcarbamylase Deficiency Successfully Treated with Prompt and Intensive Blood Purification Therapy for Severe Hyperammonemic Encephalopathy. [PDF]

Intern Med
Toba N, Sonoda T, Ishigaki S, Oda M, Nakamura Y, Kudo H, Nakajima S, Takikawa K, Ouchi H, Kato K, Kikuchi T, Nakaya I.   +11 more
europepmc   +1 more source

Biocomputational frameworks for exploring ornithine transcarbamylase mutations in OTC deficiency psychosis. [PDF]

Ann Med Surg (Lond)
Shahab SH, Habib F.
europepmc   +1 more source

Looking Beyond Severe Hypertriglyceridemia when Diagnosing Adult-Onset Citrullinemia Type II. [PDF]

Eur J Case Rep Intern Med
Truong TH, Kim NT, Do DL, Vu MP, Nguyen MT, Le HA, Le TT.   +6 more
europepmc   +1 more source

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Urea cycle disorders

Seminars in Neonatology, 2002
Most patients with urea cycle disorders who present as neonates, do so with deteriorating feeding, drowsiness and tachypnoea, following a short initial period when they appear well. The plasma ammonia should be measured at the same time as the septic screen in such patients.
J V, Leonard, A A M, Morris
openaire   +3 more sources

The Urea Cycle Disorders

Seminars in Neurology, 2014
The urea cycle is the primary nitrogen-disposal pathway in humans. It requires the coordinated function of six enzymes and two mitochondrial transporters to catalyze the conversion of a molecule of ammonia, the α-nitrogen of aspartate, and bicarbonate into urea.
Helman, Guy, Pacheco-Colón, Ileana, Gropman, Andrea L.   +2 more
openaire   +4 more sources