Skip to content
akaturk Academic measurement
Sign in Sign up

OpenAlex topic

Metabolism and Genetic Disorders

This page lists works and academicians tagged with an OpenAlex topic. It is not a YÖKSİS primary or secondary field.

OpenAlex 5,805 works 137 author topics

Works

5,805 works

  1. An atlas of genetic influences on human blood metabolites 2014
    YÖKSİS SJR Q1 JCR Q1 OpenAlex top 1% OpenAlex 99.9%

    No abstract yet.

  2. Altitude adaptation in Tibetans caused by introgression of Denisovan like DNA 2014
    YÖKSİS SJR Q1 JCR Q1 OpenAlex top 1% OpenAlex 99.9%

    No abstract yet.

  3. Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia 2014
    YÖKSİS SJR Q1 JCR Q2 OpenAlex top 1% OpenAlex 99.8%

    Methylmalonic and propionic acidemia (MMA/PA) are inborn errors of metabolism characterized by accumulation of propionic acid and/or methylmalonic acid due to deficiency of methylmalonyl-CoA mutase (MUT) or propionyl-CoA carboxylase (PCC). MMA has an estimated incidence of ~ 1: 50,000 and PA of ~ 1:100-000 -150,000. P…

  4. PNPASE Regulates RNA Import into Mitochondria 2010
    YÖKSİS SJR Q1 JCR Q1 OpenAlex top 10% OpenAlex 98.9%

    No abstract yet.

  5. Cardiolipin defines the interactome of the major ADP ATP carrier protein of the mitochondrial inner membrane 2008
    YÖKSİS SJR Q1 JCR Q1 OpenAlex top 10% OpenAlex 98.2%

    Defined mutations in the mitochondrial ADP/ATP carrier (AAC) are associated with certain types of progressive external ophthalmoplegia. AAC is required for oxidative phosphorylation (OXPHOS), and dysregulation of AAC has been implicated in apoptosis. Little is known about the AAC interactome, aside from a known requir…

  6. Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency 1999
    OpenAlex top 1% OpenAlex 99.6%

    No abstract yet.

  7. Natural History Outcome and Treatment Efficacy in Children and Adults with Glutaryl CoA Dehydrogenase Deficiency 2006
    YÖKSİS SJR Q1 JCR Q1 OpenAlex top 10% OpenAlex 98.2%

    No abstract yet.

  8. Natural History, Outcome, and Treatment Efficacy in Children and Adults with Glutaryl-CoA Dehydrogenase Deficiency 2006
    YÖKSİS SJR Q1 JCR Q1 OpenAlex top 10% OpenAlex 98.1%

    No abstract yet.

  9. Early onset L dopa responsive parkinsonism with pyramidal signs due to ATP13A2 PLA2G6 FBXO7 and spatacsin mutations 2010
    YÖKSİS SJR Q1 JCR Q1 OpenAlex top 1% OpenAlex 99.4%

    Seven autosomal recessive genes associated with juvenile and young-onset Levodopa-responsive parkinsonism have been identified. Mutations in PRKN, DJ-1, and PINK1 are associated with a rather pure parkinsonian phenotype, and have a more benign course with sustained treatment response and absence of dementia. On the ot…

  10. Metabolic Engineering through Cofactor Manipulation and Its Effects on Metabolic Flux Redistribution in Escherichia coli 2002
    YÖKSİS SJR Q1 JCR Q1 OpenAlex top 10% OpenAlex 93.6%

    No abstract yet.

  11. A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency 2015
    YÖKSİS SJR Q1 JCR Q1 OpenAlex top 1% OpenAlex 99.8%

    BACKGROUND: Lysosomal acid lipase is an essential lipid-metabolizing enzyme that breaks down endocytosed lipid particles and regulates lipid metabolism. We conducted a phase 3 trial of enzyme-replacement therapy in children and adults with lysosomal acid lipase deficiency, an underappreciated cause of cirrhosis and se…

  12. The reality of dietary compliance in the management of phenylketonuria 2010
    YÖKSİS SJR Q3 JCR Q2 OpenAlex top 10% OpenAlex 95.1%

    In phenylketonuria (PKU), it is common for blood phenylalanine (Phe) concentrations to be outside optimal target ranges, particularly in teenagers and adults, indicating inadequate compliance. It is well known that significant noncompliance exists, and the situation in PKU would appear no different than other chronic…

Academicians

137 academicians