Associated Papers
DNAJC12 Disease: Clinical Spectrum and Long-Term Outcomes.
Manti F et al.
Neurology. Genetics, 2026
Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy.
Kiewiet G et al.
International Journal of Neonatal Screening, 2024
DNAJC12 in Monoamine Metabolism, Neurodevelopment, and Neurodegeneration.
Deng IB et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2024
Developmental delay and non-phenylketonuria (PKU) hyperphenylalaninemia in DNAJC12 deficiency: Case and approach.
Wong RSH et al.
Brain & Development, 2023
Restless legs syndrome in DNAJC12 deficiency.
Porta F et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2023
Effect of BH4 on blood phenylalanine and tyrosine variations in patients with phenylketonuria.
van Wegberg A et al.
Molecular Genetics and Metabolism, 2021
DNAJC12-associated developmental delay, movement disorder, and mild hyperphenylalaninemia identified by whole-exome sequencing re-analysis.
Veenma D et al.
European Journal of Human Genetics : Ejhg, 2018
Heterogeneous clinical spectrum of DNAJC12-deficient hyperphenylalaninemia: from attention deficit to severe dystonia and intellectual disability.
van Spronsen FJ et al.
Journal of Medical Genetics, 2017
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