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Results 1 - 4 of 4 for "Dystonia," "dopa-responsive," with or without "hyperphenylalaninemia," autosomal recessive
  1. Dopa-responsive dystonia 
    ... ClinicalTrials.gov DYSTONIA, DOPA-RESPONSIVE; DRD SEGAWA SYNDROME, AUTOSOMAL RECESSIVE DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY PubMed Arrabal L, ...
    https://medlineplus.gov/genetics/condition/dopa-responsive-dystonia - Genetics
  2. Sepiapterin reductase deficiency 
    ... J, Poll-The BT. Sepiapterin reductase deficiency an autosomal recessive DOPA-responsive dystonia. Mol Genet Metab. 2006 Sep-Oct;89(1- ... Blau N, Bonafe L, Thony B. Tetrahydrobiopterin deficiencies without ... dystonia and sepiapterin reductase deficiency. Mol Genet Metab. 2001 ...
    https://medlineplus.gov/.../sepiapterin-reductase-deficiency - Genetics
  3. SPR gene 
    ... J, Poll-The BT. Sepiapterin reductase deficiency an autosomal recessive DOPA-responsive dystonia. Mol Genet Metab. 2006 Sep-Oct;89(1- ...
    https://medlineplus.gov/genetics/gene/spr - Genetics
  4. GCH1 gene 
    ... Blau N, Bonafe L, Thony B. Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: diagnosis and genetics of dopa-responsive dystonia and sepiapterin reductase deficiency. Mol Genet Metab. 2001 ...
    https://medlineplus.gov/genetics/gene/gch1 - Genetics