Biochemical and molecular characteristics of patients with organic acidaemias and urea cycle disorders identified through newborn screening-Reference-Cited by-同舟云学术

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Biochemical and molecular characteristics of patients with organic acidaemias and urea cycle disorders identified through newborn screening

Published:2014-09 Issue:1-2 Volume:113 Page:46-52
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Barends M.,Pitt J.,Morrissy S.,Tzanakos N.,Boneh A.

Funder

Victorian Government's Operational Infrastructure Support Program

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference37 articles.

1. Evaluation and long-term follow-up of infants with inborn errors of metabolism identified in an expanded screening programme;Couce;Mol. Genet. Metab.,2011

2. Pediatric mortality due to inborn errors of metabolism in Victoria, Australia: a population-based study;Goel;JAMA,2010

3. J. Wilson, F. Jungner. World Health Organization, Geneva 1968.

4. Tandem mass spectrometry: a new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism;Millington;J. Inherit. Metab. Dis.,1990

5. Use of tandem mass spectrometry for multianalyte screening of dried blood specimens from newborns;Chace;Clin. Chem.,2003

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1. Methylmalonic acidemia triggers lysosomal-autophagy dysfunctions;Cell & Bioscience;2024-05-17

2. Long-Term Management of Patients with Mild Urea Cycle Disorders Identified through the Newborn Screening: An Expert Opinion for Clinical Practice;Nutrients;2023-12-20

3. To B(enign) or Not to B: functionalisation of variant in a mild form of argininosuccinate lyase deficiency identified through newborn screening;Clinical Dysmorphology;2023-10-13

4. Disorders of the Urea Cycle and Related Enzymes;Inborn Metabolic Diseases;2022

5. Prevalence of methylmalonic acidemia among newborns and the clinical-suspected population: a meta-analyse;The Journal of Maternal-Fetal & Neonatal Medicine;2021-11-30

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