Tyrosinemia Type III detected via neonatal screening: Management and outcome-Reference-Cited by-同舟云学术

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Tyrosinemia Type III detected via neonatal screening: Management and outcome

Published:2012-11 Issue:3 Volume:107 Page:605-607
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Heylen Evelyne,Scherer Gerd,Vincent Marie-Françoise,Marie Sandrine,Fischer Judith,Nassogne Marie-Cécile

Publisher

Elsevier BV

Subject

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

Reference12 articles.

1. Disorders of tyrosine metabolism;Chakrapani,2012

2. Mutations in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD) in patients with tyrosinaemia Type III;Rüetschi;Hum. Genet.,2000

3. Rapid diagnosis of phenylketonuria by quantitative analysis for phenylalanine and tyrosine in neonatal blood spots by tandem mass spectrometry;Chase;Clin. Chem.,1993

4. Gas-chromatographic method of analysis for urinary organic acis. I. Retention indices of 155 metabolically important compounds;Tanaka;Clin. Chem.,1980

5. The genetic tyrosinaemias;Scott;Am. J. Med. Genet.,2006

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2. Structure-based discovery of pyrazole-benzothiadiazole hybrid as human HPPD inhibitors;Structure;2023-12

3. Novel HPD mutation p.A244V compound with p.T219M causing tyrosinemia type III in a Chinese girl and review of the genotype–phenotype spectrum;Molecular Genetics & Genomic Medicine;2023-10-10

4. Clinical Features and Laboratory Diagnosis of Aminoacidopathies: A Narrative Review;Archives of Neuroscience;2023-08-13

5. Insights into 4-hydroxyphenylpyruvate dioxygenase-inhibitor interactions from comparative structural biology;Trends in Biochemical Sciences;2023-06

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