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Journal of Inherited Metabolic Disease
|
October 9, 2020
Clinical presentation and long-term follow-up of dopamine beta hydroxylase deficiency
Tessa Wassenberg, Jaap Deinum, Frans J van Ittersum, et al.
Molecular Genetics and Metabolism Reports
|
November 11, 2016
The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders
Thomas Opladen, Elisenda Cortès-Saladelafont, Mario Mastrangelo, et al.
Journal of Inherited Metabolic Disease
|
November 11, 2025
Consensus Guideline for the Diagnosis and Treatment of Tyrosine Hydroxylase (TH) Deficiency
Mariya Sigatullina Bondarenko, Oya Kuseyri Hübschmann, Jan Kulhánek, et al.
Orphanet Journal of Rare Diseases
|
January 20, 2017
Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency
Tessa Wassenberg, Marta Molero-Luis, Kathrin Jeltsch, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
November 5, 2020
Novel Protein Biomarkers of Monoamine Metabolism Defects Correlate with Disease Severity
Alba Tristán-Noguero, Eva Borràs, Marta Molero-Luis, et al.
Orphanet Journal of Rare Diseases
|
August 8, 2020
Correction to: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies
Thomas Opladen, Eduardo López-Laso, Elisenda Cortès-Saladelafont, et al.
Orphanet Journal of Rare Diseases
|
May 28, 2020
Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH<sub>4</sub>) deficiencies
Thomas 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 amines
Oya Kuseyri Hübschmann, Gabriella Horvath, Elisenda Cortès-Saladelafont, et al.
Molecular Genetics and Metabolism
|
June 22, 2023
Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes
Nastassja Himmelreich, Mariarita Bertoldi, Majid Alfadhel, et al.
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Showing results (11-20 of 19) with videos related to
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You have reached the last page of results.
This site can display upto 19 results.
Journal of Inherited Metabolic Disease
|
October 9, 2020
Clinical presentation and long-term follow-up of dopamine beta hydroxylase deficiency
Tessa Wassenberg, Jaap Deinum, Frans J van Ittersum, et al.
Molecular Genetics and Metabolism Reports
|
November 11, 2016
The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders
Thomas Opladen, Elisenda Cortès-Saladelafont, Mario Mastrangelo, et al.
Journal of Inherited Metabolic Disease
|
November 11, 2025
Consensus Guideline for the Diagnosis and Treatment of Tyrosine Hydroxylase (TH) Deficiency
Mariya Sigatullina Bondarenko, Oya Kuseyri Hübschmann, Jan Kulhánek, et al.
Orphanet Journal of Rare Diseases
|
January 20, 2017
Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency
Tessa Wassenberg, Marta Molero-Luis, Kathrin Jeltsch, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
November 5, 2020
Novel Protein Biomarkers of Monoamine Metabolism Defects Correlate with Disease Severity
Alba Tristán-Noguero, Eva Borràs, Marta Molero-Luis, et al.
Orphanet Journal of Rare Diseases
|
August 8, 2020
Correction to: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies
Thomas Opladen, Eduardo López-Laso, Elisenda Cortès-Saladelafont, et al.
Orphanet Journal of Rare Diseases
|
May 28, 2020
Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH<sub>4</sub>) deficiencies
Thomas 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 amines
Oya Kuseyri Hübschmann, Gabriella Horvath, Elisenda Cortès-Saladelafont, et al.
Molecular Genetics and Metabolism
|
June 22, 2023
Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes
Nastassja Himmelreich, Mariarita Bertoldi, Majid Alfadhel, et al.
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