Galactosemia
What's New
Last Posted: Feb 01, 2024
- Incidental Detection of Classical Galactosemia through Newborn Screening for Phenylketonuria: A 10-Year Retrospective Audit to Determine the Efficacy of This Approach.
Nathan W P Cantley et al. Int J Neonatal Screen 2024 10(1) - Prospects for Expansion of Universal Newborn Screening in Bulgaria: A Survey among Medical Professionals.
Georgi Iskrov et al. Int J Neonatal Screen 2023 9(4) - The challenges of classical galactosemia: HRQoL in pediatric and adult patients.
Merel E Hermans et al. Orphanet J Rare Dis 2023 18(1) 135 - Secondary Reporting of G6PD Deficiency on Newborn Screening.
Stephanie C Hoang et al. Int J Neonatal Screen 9(2) - Association of genetic disorders and congenital malformations with premature ovarian insufficiency: a nationwide register-based study.
H Silvén et al. Human reproduction (Oxford, England) 2023 - The Importance of Neonatal Screening for Galactosemia.
Badiu Ti?a Ioana et al. Nutrients 2023 15(1) - Addition of Galactose-1-phosphate measurement enhances newborn screening for classical galactosemia.
Daas Suha et al. Journal of inherited metabolic disease 2022 - All aspects of galactosemia: a single center experience.
Akgun Abdurrahman et al. Journal of pediatric endocrinology & metabolism : JPEM 2022 - Qualitative interviews with adults with Classic Galactosemia and their caregivers: disease burden and challenges with daily living.
Randall Jason A et al. Orphanet journal of rare diseases 2022 17(1) 138 - Neonatal screening program for five conditions in Honduras.
Buckley Michelle Melissa Miralda et al. Journal of community genetics 2021 Jan
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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
- Page last updated:Apr 21, 2024
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