Last Posted: Nov 17, 2020
- Evaluation of the efficiency of serum biotinidase activity as a newborn screening test in Turkey.
Ercan Mujgan et al. Journal of pediatric endocrinology & metabolism : JPEM 2020 Nov
- Developmental and behavioral outcomes of preschool-aged children with biotinidase deficiency identified by newborn screening.
Zengin Akkus P et al. European journal of pediatrics 2020 Jul
- Novel mutations causing biotinidase deficiency in individuals identified by the newborn screening program in Minas Gerais, Brazil.
Carvalho Nara O et al. American journal of medical genetics. Part A 2019 179(6) 978-982
- Incidence of newborn screening disorders among 56632 infants in Central Saudi Arabia. A 6-year study.
Mohamed Sarar et al. Saudi medical journal 2020 Jul 41(7) 703-708
- Biotinidase Deficiency: Prevalence, Impact And Management Strategies.
Canda Ebru et al. Pediatric health, medicine and therapeutics 2020 11127-133
- Expanded carrier screening for preconception reproductive risk assessment: Prevalence of carrier status in a Mexican population.
Hernandez-Nieto Carlos et al. Prenatal diagnosis 2020 Jan
- Frequency of biotinidase gene variants and incidence of biotinidase deficiency in the Newborn Screening Program in Minas Gerais, Brazil.
Carvalho Nara de Oliveira et al. Journal of medical screening 2019 Dec 969141319892298
- Neurological Sequelae due to Inborn Metabolic Diseases in Pediatric Refugees: Challenges in Treating the Untreated.
Schiergens Katharina A et al. Neuropediatrics 2018 49(6) 363-368
- Health-care providers' perspectives on uncertainty generated by variant forms of newborn screening targets.
Azzopardi Paul J et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Oct
- Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
David Jan et al. Central European journal of public health 2019 Jun 27(2) 153-159
- Single center experience of biotinidase deficiency: 259 patients and six novel mutations.
Canda Ebru et al. Journal of pediatric endocrinology & metabolism : JPEM 2018 Aug 31(8) 917-926
- Are we missing patients with biotinidase deficiency in France?
Deschamps R et al. Revue neurologique 2018 May 174(5) 273-274
- Multiplex tandem mass spectrometry assay for newborn screening of X-linked adrenoleukodystrophy, biotinidase deficiency, and galactosemia with flexibility to assay other enzyme assays and biomarkers.
Hong Xinying et al. Molecular genetics and metabolism 2018 Mar
- Long-term outcome of expanded newborn screening at Boston children's hospital: benefits and challenges in defining true disease.
Landau Yuval E et al. Journal of inherited metabolic disease 2017 Mar 40(2) 209-218
- Neonatal screening for biotinidase deficiency: A 30-year single center experience.
Porta Francesco et al. Molecular genetics and metabolism reports 2017 Dec 1380-82
Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic discoveries into improved health outcomes related to rare diseases...more
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.