Showing results (11-20 of 20) with videos related to
Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 20 results.
Orphanet Journal of Rare Diseases|May 28, 2020
Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH<sub>4</sub>) deficienciesThomas Opladen, Eduardo López-Laso, Elisenda Cortès-Saladelafont, et al.Orphanet Journal of Rare Diseases|August 8, 2020
Correction to: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficienciesThomas Opladen, Eduardo López-Laso, Elisenda Cortès-Saladelafont, et al.Nature Communications|September 21, 2021
Insights into the expanding phenotypic spectrum of inherited disorders of biogenic aminesOya Kuseyri Hübschmann, Gabriella Horvath, Elisenda Cortès-Saladelafont, et al.Journal of Inherited Metabolic Disease|July 15, 2023
Levodopa-refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolismYılmaz Yıldız, Oya Kuseyri Hübschmann, Ayça Akgöz Karaosmanoğlu, et al.Brain : a Journal of Neurology|February 2, 2023
BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screeningTrine Tangeraas, Juliana R Constante, Paul Hoff Backe, et al.Journal of Inherited Metabolic Disease|January 14, 2021
Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patientsOya Kuseyri Hübschmann, Alexander Mohr, Jennifer Friedman, et al.Journal of Inherited Metabolic Disease|July 10, 2021
Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registryMareike Keller, Heiko Brennenstuhl, Oya Kuseyri Hübschmann, et al.Frontiers in Cell and Developmental Biology|June 3, 2026
Correction: Developmental outcome of electroencephalographic findings in SYNGAP1 encephalopathyJuliana Ribeiro-Constante, Alba Tristán-Noguero, Fernando Francisco Martínez Calvo, et al.Frontiers in Cell and Developmental Biology|March 20, 2024
Developmental outcome of electroencephalographic findings in <i>SYNGAP1</i> encephalopathyJuliana Ribeiro-Constante, Alba Tristán-Noguero, Fernando Francisco Martínez Calvo, et al.Neurobiology of Disease|March 19, 2026
Genotype-phenotype correlations and putative modifier genes in SYNGAP1 encephalopathySelena Aranda, Juliana Ribeiro-Constante, Alba Tristán-Noguero, et al.Pageof 2