Urea Cycle Disorders
What's New
Last Posted: Sep 22, 2022
- Proximal urea cycle defects are challenging to detect with newborn screening: Results of a prospective pilot study using post-analytical tools.
Hall Patricia Liane et al. American journal of medical genetics. Part C, Seminars in medical genetics 2022 - What are the clues for an inherited metabolic disorder in Reye syndrome? A single Centre study of 58 children.
Goetz Violette et al. Molecular genetics and metabolism 2022 - Inherited Metabolic Disorders in the Neonatal Intensive Care Unit: Red Flags to Look Out For.
Eminoglu Fatma Tuba et al. Pediatrics international : official journal of the Japan Pediatric Society 2021 - Severity-adjusted evaluation of newborn screening on the metabolic disease course in individuals with cytosolic urea cycle disorders.
Posset Roland et al. Molecular genetics and metabolism 2020 Nov - The role of orotic acid measurement in routine newborn screening for urea cycle disorders.
Staretz-Chacham Orna et al. Journal of inherited metabolic disease 2020 Nov - Considering Proximal Urea Cycle Disorders in Expanded Newborn Screening.
Vasquez-Loarte Tania et al. International journal of neonatal screening 2020 Oct 6(4) - Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders-A successful strategy for clinical research of rare diseases.
Posset Roland et al. Journal of inherited metabolic disease 2019 Jan 42(1) 93-106 - CLINGEN Actionability Report for Adult‑onset type II citrullinemia - SLC25A13
ClinGen Actionability Working Group - CLINGEN Actionability Report for Glutaric Acidemia I - GCDH
ClinGen Actionability Working Group - CLINGEN Actionability Report for Ornithine Transcarbamylase Deficiency-OTC
ClinGen Actionability Working Group
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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
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