60 results

... C. The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation. J Inherit Metab ... A. The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype. J Inherit ...

... abnormal very long chain fatty acids. >20 genes Urea cycle disorders / organic acidemias (See Propionic Acidemia , Glutaric Acidemia Type ... Pyrroline-5-carboxylate synthetase deficiency: an emergent multifaceted urea cycle-related disorder. J Inherit Metab Dis. 2020; 43 :657–70. [ ...

... syndrome (see MECP2 Disorders ), Smith-Lemli-Opitz syndrome , urea cycle disorders [ Molero-Luis et al 2013 , Ng et al ...

... I AR CPS1 Carbamoylphosphate synthetase I deficiency (See Urea Cycle Disorders Overview .) AR CPT1A Carnitine palmitoyltransferase 1A deficiency AR ...

... ketothiolase deficiency [OMIM 203750 ]) Urea cycle defects (See Urea Cycle Disorders Overview .) Glycine encephalopathy (nonketotic hyperglycinemia) Propionic acidemia or ...

... al [2012] CPS1 Carbamoylphosphate synthetase I deficiency (See Urea Cycle Disorders Overview .) AR c.3265C>T p.Arg1089Cys ~100% ...

... 14757854 ] Keskinen P, Siitonen A, Salo M. Hereditary urea cycle diseases in Finland. Acta Paediatr. 2008;97:1412–9. [ ...

... Chain Hydroxyacyl-CoA Dehydrogenase Deficiency / Trifunctional Protein Deficiency .) Urea cycle disorders Organic acidurias such as methylmalonic and propionic acidemia ...

... in the carbamoyl phosphate synthetase 1 (CPS1 ) (see Urea Cycle Disorders Overview ), factor V Leiden (FVL), HFE (see HFE - ...

... to methylene tetrahydrofolate reductase [MTHFR] deficiency), cobalamin C disease , urea cycle defects , biotinidase deficiency , phenylketonuria , glycine encephalopathy, cerebral folate ...