Pages that link to "Q37634124"

The following pages link to Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood (Q37634124):

Displaying 27 items.

• Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD). (Q33627507) (← links)
• Incidence, disease onset and short-term outcome in urea cycle disorders -cross-border surveillance in Germany, Austria and Switzerland (Q33805398) (← links)
• FLAGS, frequently mutated genes in public exomes (Q34707985) (← links)
• The hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (Q35174229) (← links)
• Exome Sequencing and the Management of Neurometabolic Disorders. (Q37171865) (← links)
• Expression of Carbonic Anhydrase I in Motor Neurons and Alterations in ALS (Q37465441) (← links)
• Long-term outcome of isobutyryl-CoA dehydrogenase deficiency diagnosed following an episode of ketotic hypoglycaemia (Q37543805) (← links)
• The metabolic evaluation of the child with an intellectual developmental disorder: diagnostic algorithm for identification of treatable causes and new digital resource (Q38187316) (← links)
• The diversity of carbon dioxide-concentrating mechanisms in marine diatoms as inferred from their genetic content. (Q38782734) (← links)
• Cytosolic phosphoenolpyruvate carboxykinase deficiency presenting with acute liver failure following gastroenteritis (Q38895948) (← links)
• Targeting CPS1 in the treatment of Carbamoyl phosphate synthetase 1 (CPS1) deficiency, a urea cycle disorder (Q39172747) (← links)
• Retrospective analysis supports algorithm as efficient diagnostic approach to treatable intellectual developmental disabilities (Q41175184) (← links)
• Hyperammonemia as a Presenting Feature in Two Siblings with FBXL4 Variants. (Q41619291) (← links)
• Early identification of treatable inborn errors of metabolism in children with intellectual disability: The Treatable Intellectual Disability Endeavor protocol in British Columbia. (Q41873494) (← links)
• Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis. (Q48229975) (← links)
• The role of the clinician in the multi-omics era: are you ready? (Q49835278) (← links)
• Precision medicine in rare disease: Mechanisms of disparate effects of N-carbamyl-l-glutamate on mutant CPS1 enzymes. (Q51241951) (← links)
• Carbonic Anhydrases: Role in pH Control and Cancer. (Q52678989) (← links)
• Cloning, expression, purification and characterization of human mitochondrial carbonic anhydrase VA. (Q53761124) (← links)
• Understanding N-Acetyl-L-Glutamate Synthase Deficiency: Mutational Spectrum, Impact of Clinical Mutations on Enzyme Functionality, and Structural Considerations. (Q54203122) (← links)
• Sources and Fates of Carbamyl Phosphate: A Labile Energy-Rich Molecule with Multiple Facets. (Q55429528) (← links)
• Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency (Q55784783) (← links)
• Pharmacologic rescue of hyperammonemia-induced toxicity in zebrafish by inhibition of ornithine aminotransferase (Q58756503) (← links)
• Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders (Q64039464) (← links)
• RNA-seq Transcriptome Analysis in Ovarian Tissue of Pelibuey Breed to Explore the Regulation of Prolificacy. (Q64956943) (← links)
• Efficacy of N-carbamoyl-L-glutamic acid for the treatment of inherited metabolic disorders (Q90402295) (← links)
• Fatal metabolic decompensation in carbonic anhydrase VA deficiency despite early treatment and control of hyperammonemia (Q90885062) (← links)