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Public Health Genomics and Precision Health Knowledge Base (v9.0)
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Precision Health Database|Search|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
Rare Diseases
Last data update: May 18, 2024
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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
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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
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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
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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
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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
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Considering Proximal Urea Cycle Disorders in Expanded Newborn Screening.
Vasquez-Loarte Tania et al. International journal of neonatal screening 2020 Oct 6(4)
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CLINGEN Actionability Report for Glutaric Acidemia I - GCDH
ClinGen Actionability Working Group
CLINGEN Actionability Report for Adult‑onset type II citrullinemia - SLC25A13
ClinGen Actionability Working Group
CLINGEN Actionability Report for Ornithine Transcarbamylase Deficiency-OTC
ClinGen Actionability Working Group
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
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Newborn screening for proximal urea cycle disorders: Current evidence supporting recommendations for newborn screening.
Merritt J Lawrence et al. Molecular genetics and metabolism 2018 Apr
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A Critical Evaluation of Pharmacogenetic Information in Package Inserts for Selected Drugs Marketed in India and Its Comparison With US FDA-Approved Package Inserts.
Pai Sarayu Arvind et al. Journal of clinical pharmacology 2016 Oct 56(10) 1232-42
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Page last reviewed:
Feb 1, 2024
Page last updated:
May 18, 2024
Content source:
Public Health Genomics Branch in the Division of Blood Disorders and Public Health Genomics
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National Center on Birth Defects and Developmental Disabilities
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