Homocystinuria
What's New
Last Posted: Jul 23, 2023
- Newborn Screening Is a Lifesaver
CDC, July 2023 - Precision information extraction for rare disease epidemiology at scale.
William Z Kariampuzha et al. Journal of translational medicine 2023 21(1) 157 - Early Development of Newborn Screening for HCU and Current Challenges.
Levy Harvey L et al. International journal of neonatal screening 2021 7(4) - Selective screening for inborn errors of metabolism by tandem mass spectrometry at Sohag University Hospital, Egypt.
Magdy Rofaida M et al. Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 2021 - Early Diagnosis of Classic Homocystinuria in Kuwait through Newborn Screening: A 6-Year Experience.
Alsharhan Hind et al. International journal of neonatal screening 2021 7(3) - Long-Term Outcomes of Adult Patients with Homocystinuria before and after Newborn Screening.
Yamada Kenji et al. International journal of neonatal screening 2020 Jul 6(3) - The Cost-Effectiveness of Expanding the UK Newborn Bloodspot Screening Programme to Include Five Additional Inborn Errors of Metabolism.
Bessey Alice et al. International journal of neonatal screening 2020 Nov 6(4) - Metabolic Serendipities of Expanded Newborn Screening.
Yahyaoui Raquel et al. Genes 2020 Aug 11(9) - Inborn errors of metabolism detectable by tandem mass spectrometry in Beijing.
Yang Nan et al. Journal of pediatric endocrinology & metabolism : JPEM 2020 Apr - Biochemical Screening of Intellectually Disabled Patients: A Stepping Stone to Initiate a Newborn Screening Program in Pakistan.
Wasim Muhammad et al. Frontiers in neurology 2019 10762
More
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
Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch 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, 2024
- Content source: