Last Posted: Dec 18, 2020
- High frequency of biotinidase deficiency in Italian population identified by newborn screening.
Funghini Silvia et al. Molecular genetics and metabolism reports 2020 Dec 25100689
- 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
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 and other precision health 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
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