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Literature DB >> 9825985

Incidence of biotinidase deficiency in Turkish newborns.

T Baykal, G Hüner, G Sarbat, M Demirkol.

Abstract

Entities: Disease

Mesh：

Substances：

Year: 1998 PMID： 9825985 DOI： 10.1080/080352598750031518

Source DB: PubMed Journal: Acta Paediatr ISSN： 0803-5253 Impact factor: 2.299

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10 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. Asymptomatic adults and older siblings with biotinidase deficiency ascertained by family studies of index cases.

Authors: T Baykal; G Gokcay; Y Gokdemir; F Demir; Y Seckin; M Demirkol; K Jensen; B Wolf
Journal: J Inherit Metab Dis Date: 2005 Impact factor: 4.982

3. The development and organization of newborn screening programs in Turkey.

Authors: Başak Tezel; Dilek Dilli; Hilal Bolat; Hatice Sahman; Sema Ozbaş; Deniz Acıcan; Mustafa Ertek; Mehmet Rıfat Köse; Uğur Dilmen
Journal: J Clin Lab Anal Date: 2013-12-27 Impact factor: 2.352

4. High Incidence of Partial Biotinidase Deficiency in the First 3 Years of a Regional Newborn Screening Program in Italy.

Authors: Daniela Semeraro; Sara Verrocchio; Giulia Di Dalmazi; Claudia Rossi; Damiana Pieragostino; Ilaria Cicalini; Rossella Ferrante; Silvia Di Michele; Liborio Stuppia; Cristiano Rizzo; Francesca Romana Lepri; Antonio Novelli; Carlo Dionisi-Vici; Vincenzo De Laurenzi; Ines Bucci
Journal: Int J Environ Res Public Health Date: 2022-07-02 Impact factor: 4.614

Incidence of biotinidase deficiency in Turkish newborns.

1. Novel mutations cause biotinidase deficiency in Turkish children.

2. Asymptomatic adults and older siblings with biotinidase deficiency ascertained by family studies of index cases.

3. The development and organization of newborn screening programs in Turkey.

4. High Incidence of Partial Biotinidase Deficiency in the First 3 Years of a Regional Newborn Screening Program in Italy.

5. Genetic screening services provided in Turkey.

6. Biotinidase deficiency mimicking primary immune deficiencies.

7. Comparison of Spectrophotometric and Fluorimetric Methods in Evaluation of Biotinidase Deficiency.

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

Review 9. Biotinidase Deficiency: Prevalence, Impact And Management Strategies.

10. Management of anesthesia in biotinidase deficiency.