Phenylalanine and tyrosine metabolism in DNAJC12 deficiency: A comparison between inherited hyperphenylalaninemias and healthy subjects
Author:
Publisher
Elsevier BV
Subject
Neurology (clinical),General Medicine,Pediatrics, Perinatology and Child Health
Reference28 articles.
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2. DNAJC12 and dopa-responsive nonprogressive parkinsonism;Straniero;Ann. Neurol.,2017
3. DNAJC12 deficiency: a new strategy in the diagnosis of hyperphenylalaninemias;Blau;Mol. Genet. Metabol.,2018
4. Differential diagnosis of tetrahydrobiopterin deficiency;Niederwieser;J. Inherit. Metab. Dis.,1985
5. Differential diagnosis of hyperphenylalaninaemia by a combined phenylalanine-tetrahydrobiopterin loading test;Ponzone;Eur. J. Pediatr.,1993
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1. Characterization of Dnajc12 knockout mice, a model of hypodopaminergia;2024-07-10
2. A Case of DNAJC12-Deficient Hyperphenylalaninemia Detected on Newborn Screening: Clinical Outcomes from Early Detection;International Journal of Neonatal Screening;2024-01-17
3. Developmental delay and non-phenylketonuria (PKU) hyperphenylalaninemia in DNAJC12 deficiency: Case and approach;Brain and Development;2023-10
4. Identification of two novel DNAJC12 gene variants in a patient with mild hyperphenylalaninemia;Gene;2023-06
5. Restless legs syndrome in DNAJC12 deficiency;Neurological Sciences;2023-03-10
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