Results 81 to 90 of about 27,934,643 (129)

Steatogenesis in adult-onset type II citrullinemia is associated with down-regulation of PPARα（成人発症Ⅱ型シトルリン血症における脂肪肝はPPARαの発現低下に由来する）

, 2014
信州大学(Shinshu university)博士（医学）雑誌に発表。BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE. 1852(3):473-481 (2015); doi:10.1016/j.bbadis.2014.12.011.Thesis木村　岳史.
木村, 岳史
core  

A rare case of type 1 citrullinemia in newborn

, 2022
Ashutosh Singh Rathore, Guntupalli Shravya L., Dhrumika Seth   +2 more
core   +1 more source

Molecular epidemiology of citrullinemia type I in a risk region of Argentina: a first step to preconception heterozygote detection. [PDF]

JIMD Rep, 2012
Laróvere LE, Ruiz SM, Angaroni CJ, de Kremer RD.   +3 more
europepmc   +1 more source

Dried Blood Spot-Based Monitoring of Dietary Treatment in Children, Adolescents, and Young Adults with Inherited Disorders of Amino Acid Metabolism: A Four-Year Pilot Study. [PDF]

Nutrients
Kowalik A, Głąb-Jabłońska E, Taybert J, Nogalska M, Sasin-Rokita M, Chełchowska M, Myszkowska-Ryciak J, Sykut-Cegielska J.   +7 more
europepmc   +1 more source

Citrullinemia type 1 manifesting with a stroke-like episode: a case report. [PDF]

Oxf Med Case Reports
Zayed A, Abdul-Hafez HA, Ashhab M, Dweikat I.   +3 more
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

Second-Tier Whole Exome Sequencing Following Abnormal Newborn Screening: Diagnostic Yield, Secondary Findings, and Carrier Burden in a Taiwanese Neonatal Cohort. [PDF]

Children (Basel)
Lee CY, Niu DM, Yang CF, Chen YJ.
europepmc   +1 more source

Citrin Deficiency: Biochemical Mechanisms Underlying a Complex Hepatic Metabolic Disorder. [PDF]

Biomolecules
García-Lobo I, Del Arco A, Satrústegui J, Contreras L.   +3 more
europepmc   +1 more source

Impact of long-term nitrogen scavenger therapy on clinical outcome in individuals with urea cycle disorders. [PDF]

Sci Rep
Posset R, Epp F, Garbade SF, Gleich F, Gropman AL, Nagamani SCS, Hoffmann GF, Kölker S, Zielonka M.   +8 more
europepmc   +1 more source

Newborn Screening for Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency and Analysis of <i>SLC25A13</i> Gene Mutations in Hefei, China. [PDF]

Int J Neonatal Screen
Ma Q, Chen J, Huang Y, Wang Y, Song W, Xu H, Wan Y, Hu H.   +7 more
europepmc   +1 more source