Literature DB >> 25638506

Why screen newborns for profound and partial biotinidase deficiency?

Barry Wolf1.   

Abstract

Entities:  

Keywords:  Biotinidase; Biotinidase deficiency; Newborn screening; Partial biotinidase deficiency; Profound biotinidase deficiency; Screening

Mesh：

Substances：

Year:  2015        PMID： 25638506     DOI： 10.1016/j.ymgme.2015.01.003

Source DB:  PubMed          Journal:  Mol Genet Metab        ISSN： 1096-7192            Impact factor:   4.797


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  15 in total

Review 1.  Clinical utility gene card for: Biotinidase deficiency-update 2015.

Authors:  Sébastien Küry; Vincent Ramaekers; Stéphane Bézieau; Barry Wolf
Journal:  Eur J Hum Genet       Date:  2015-11-18       Impact factor: 4.246

2.  Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations.

Authors:  Rachel C Wiltink; Michelle E Kruijshaar; Rick van Minkelen; Willem Onkenhout; Frans W Verheijen; Evelien A Kemper; Francjan J van Spronsen; Ans T van der Ploeg; Klary E Niezen-Koning; Jasper J Saris; Monique Williams
Journal:  Eur J Hum Genet       Date:  2016-06-22       Impact factor: 4.246

3.  Irreversibility of Symptoms with Biotin Therapy in an Adult with Profound Biotinidase Deficiency.

Authors:  Patrick Ferreira; Alicia Chan; Barry Wolf
Journal:  JIMD Rep       Date:  2017-02-21

4.  Molecular Background and Disease Prevalence of Biotinidase Deficiency in a Polish Population-Data Based on the National Newborn Screening Programme.

Authors:  Aleksandra Jezela-Stanek; Lidia Suchoń; Agnieszka Sobczyńska-Tomaszewska; Kamila Czerska; Katarzyna Kuśmierska; Joanna Taybert; Mariusz Ołtarzewski; Jolanta Sykut-Cegielska
Journal:  Genes (Basel)       Date:  2022-04-29       Impact factor: 4.141

5.  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

6.  Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses.

Authors:  Trine Tangeraas; Ingjerd Sæves; Claus Klingenberg; Jens Jørgensen; Erle Kristensen; Gunnþórunn Gunnarsdottir; Eirik Vangsøy Hansen; Janne Strand; Emma Lundman; Sacha Ferdinandusse; Cathrin Lytomt Salvador; Berit Woldseth; Yngve T Bliksrud; Carlos Sagredo; Øyvind E Olsen; Mona C Berge; Anette Kjoshagen Trømborg; Anders Ziegler; Jin Hui Zhang; Linda Karlsen Sørgjerd; Mari Ytre-Arne; Silje Hogner; Siv M Løvoll; Mette R Kløvstad Olavsen; Dionne Navarrete; Hege J Gaup; Rina Lilje; Rolf H Zetterström; Asbjørg Stray-Pedersen; Terje Rootwelt; Piero Rinaldo; Alexander D Rowe; Rolf D Pettersen
Journal:  Int J Neonatal Screen       Date:  2020-06-27

7.  Apparent underdiagnosis of Cerebrotendinous Xanthomatosis revealed by analysis of ~60,000 human exomes.

Authors:  Vivek Appadurai; Andrea DeBarber; Pei-Wen Chiang; Shailendra B Patel; Robert D Steiner; Charles Tyler; Penelope E Bonnen
Journal:  Mol Genet Metab       Date:  2015-10-26       Impact factor: 4.797

8.  Clinical, Biochemical and Outcome Profile of Biotinidase Deficient Patients from Tertiary Centre in Northern India.

Authors:  Ankur Singh; Avinash Lomash; Sanjeev Pandey; Seema Kapoor
Journal:  J Clin Diagn Res       Date:  2015-12-01

9.  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

10.  Differential gene expression during early development in brains of wildtype and biotinidase-deficient mice.

Authors:  Christian Brigolin; Nathan McKenty; Kirit Pindolia; Barry Wolf
Journal:  Mol Genet Metab Rep       Date:  2016-10-08
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