Literature DB >> 10801060

Novel mutations in children with profound biotinidase deficiency from Saudi Arabia.

R J Pomponio1, P T Ozand, M Al Essa, B Wolf.   

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Year:  2000        PMID： 10801060     DOI： 10.1023/a:1005626102147

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  9 in total

1.  Novel mutations cause biotinidase deficiency in Turkish children.

Authors:  R J Pomponio; T Coskun; M Demirkol; A Tokatli; I Ozalp; G Hüner; T Baykal; B Wolf
Journal:  J Inherit Metab Dis       Date:  2000-03       Impact factor: 4.982

2.  Consanguinity among the Saudi Arabian population.

Authors:  M A el-Hazmi; A R al-Swailem; A S Warsy; A M al-Swailem; R Sulaimani; A A al-Meshari
Journal:  J Med Genet       Date:  1995-08       Impact factor: 6.318

3.  Mutations causing profound biotinidase deficiency in children ascertained by newborn screening in the United States occur at different frequencies than in symptomatic children.

Authors:  K J Norrgard; R J Pomponio; J Hymes; B Wolf
Journal:  Pediatr Res       Date:  1999-07       Impact factor: 3.756

4.  Mutations in the human biotinidase gene that cause profound biotinidase deficiency in symptomatic children: molecular, biochemical, and clinical analysis.

Authors:  R J Pomponio; J Hymes; T R Reynolds; G A Meyers; K Fleischhauer; G A Buck; B Wolf
Journal:  Pediatr Res       Date:  1997-12       Impact factor: 3.756

5.  Structure of the human biotinidase gene.

Authors:  H C Knight; T R Reynolds; G A Meyers; R J Pomponio; G A Buck; B Wolf
Journal:  Mamm Genome       Date:  1998-04       Impact factor: 2.957

6.  Mutational hotspot in the human biotinidase gene causes profound biotinidase deficiency.

Authors:  R J Pomponio; T R Reynolds; H Cole; G A Buck; B Wolf
Journal:  Nat Genet       Date:  1995-09       Impact factor: 38.330

7.  Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency.

Authors:  B Wolf; R E Grier; R J Allen; S I Goodman; C L Kien
Journal:  Clin Chim Acta       Date:  1983-07-15       Impact factor: 3.786

8.  Human serum biotinidase. cDNA cloning, sequence, and characterization.

Authors:  H Cole; T R Reynolds; J M Lockyer; G A Buck; T Denson; J E Spence; J Hymes; B Wolf
Journal:  J Biol Chem       Date:  1994-03-04       Impact factor: 5.157

9.  Ethylmalonic aciduria: an organic acidemia with CNS involvement and vasculopathy.

Authors:  P T Ozand; M Rashed; D S Millington; N Sakati; S Hazzaa; Z Rahbeeni; A al Odaib; N Youssef; A Mazrou; G G Gascon
Journal:  Brain Dev       Date:  1994-11       Impact factor: 1.961
  9 in total
  3 in total

1.  High frequencies of biotinidase (BTD) gene mutations in the Hungarian population.

Authors:  Ilona Milánkovics; Krisztina Németh; Csilla Somogyi; Agnes Schuler; György Fekete
Journal:  J Inherit Metab Dis       Date:  2010-06-15       Impact factor: 4.982

2.  Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics.

Authors:  Erin T Strovel; Tina M Cowan; Anna I Scott; Barry Wolf
Journal:  Genet Med       Date:  2017-07-05       Impact factor: 8.822

3.  Genotypic and phenotypic correlations of biotinidase deficiency in the Chinese population.

Authors:  Rai-Hseng Hsu; Yin-Hsiu Chien; Wuh-Liang Hwu; I-Fan Chang; Hui-Chen Ho; Shi-Ping Chou; Tzu-Ming Huang; Ni-Chung Lee
Journal:  Orphanet J Rare Dis       Date:  2019-01-07       Impact factor: 4.123
  3 in total

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