Jan Kulhanek
Prague, PR, Czech Republic
Last Updated: 09/26/2026
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Found 9 publications
Consensus Guideline for the Diagnosis and Treatment of Tyrosine Hydroxylase (TH) Deficiency.
Journal: Journal of inherited metabolic disease
Published: July 05, 2025
Integrative Approach to Predict Severity in Nonketotic Hyperglycinemia.
Journal: Annals of neurology
Published: November 03, 2021
Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry.
Journal: Journal of inherited metabolic disease
Published: May 21, 2021
Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines.
Journal: Nature communications
Published: December 09, 2020
Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients.
Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients.
Journal: Journal of inherited metabolic disease
Published: October 30, 2020
Correction to: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies.
Journal: Orphanet journal of rare diseases
Published: August 08, 2020
Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies.
Journal: Orphanet journal of rare diseases
Published: November 26, 2019
POLR3B-associated leukodystrophy: clinical, neuroimaging and molecular-genetic analyses in four patients: clinical heterogeneity and novel mutations in POLR3B gene.
Journal: Neurologia i neurochirurgia polska
Published: December 19, 2018
Peripapillary microcirculation in Leber hereditary optic neuropathy.
Journal: Acta ophthalmologica
Published: October 03, 2017
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Last Updated: 09/26/2026