Last Posted: Apr 27, 2023
- Newborn Screening Conditions: Early Intervention and Probability of Developmental Delay.
Elizabeth Reynolds et al. J Dev Behav Pediatr
- A Rare Biotinidase Deficiency in the Pediatrics Population: Genotype-Phenotype Analysis.
Balachander Kannan et al. Journal of pediatric genetics 2023 12(1) 1-15
- Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics.
et al. Genetics in medicine : official journal of the American College of Medical Genetics 2023 25(1) 164-165
- Evaluation of patients diagnosed with phenylketonuria and biotinidase deficiency by the newborn screening program: a ten-year retrospective study.
Toktas Izzettin et al. The Turkish journal of pediatrics 2022 64(6) 985-992
- Simultaneous newborn screening for sickle cell disease, biotinidase deficiency, and hereditary tyrosinemia type 1 with an optimized tandem mass spectrometry protocol.
Lobitz Stephan et al. Annals of hematology 2022
- 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
About Rare Diseases PHGKB
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
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.
- Page last reviewed:Feb 1, 2023
- Page last updated:May 27, 2023
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