Literature DB >> 29594939

Dihydropteridine Reductase Deficiency: A Treatable Neurotransmitter Movement Disorder Masquerading as Refractory Epilepsy Due to Novel Mutation.

Vykuntaraju K Gowda1,2, Hemadriben Vegda3, Naveen Benakappa4, Asha Benakappa4.   

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Year:  2018        PMID： 29594939     DOI： 10.1007/s12098-018-2671-7

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN： 0019-5456            Impact factor:   1.967


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  3 in total

1.  Dihydropteridine reductase deficiency and treatment with tetrahydrobiopterin: a case report.

Authors:  Curtis R Coughlin; Keith Hyland; Rebecca Randall; Can Ficicioglu
Journal:  JIMD Rep       Date:  2012-12-29

2.  Dihydropteridine reductase deficiency: physical structure of the QDPR gene, identification of two new mutations and genotype-phenotype correlations.

Authors:  I Dianzani; L de Sanctis; P M Smooker; T J Gough; C Alliaudi; A Brusco; M Spada; N Blau; M Dobos; H P Zhang; N Yang; A Ponzone; W L Armarego; R G Cotton
Journal:  Hum Mutat       Date:  1998       Impact factor: 4.878

Review 3.  Dihydropteridine reductase deficiency in man: from biology to treatment.

Authors:  Alberto Ponzone; Marco Spada; Silvio Ferraris; Irma Dianzani; Luisa de Sanctis
Journal:  Med Res Rev       Date:  2004-03       Impact factor: 12.944
  3 in total
  1 in total

1.  Disorders of Tetrahydrobiopterin Metabolism: Experience from South India.

Authors:  Somdattaa Ray; Hansashree Padmanabha; Vykuntaraju K Gowda; Rohan Mahale; Rita Christopher; Shruthy Sreedharan; Debjyoti Dhar; Mahesh Kamate; Madhu Nagappa; Maya Bhat; Rammurthy Anjanappa; Gautham Arunachal; M Pooja; P S Mathuranath; S R Chandra
Journal:  Metab Brain Dis       Date:  2022-01-08       Impact factor: 3.584
  1 in total

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