Thomas Opladen

Latest

• The continuously evolving phenotype of succinicsemialdehyde dehydrogenase deficiency
• Gene therapy for aromatic L-amino acid decarboxylase deficiency: requirements for safe application and knowledge-generating follow-up
• Sprachliche Auffälligkeiten bei Succinat-Semialdehyd-Dehydrogenase-Mangel – die Untersuchung der Sprache bei drei von SSADHD betroffenen Personen
• aRgus: Multilevel visualization of non-synonymous single nucleotide variants & advanced pathogenicity score modeling for genetic vulnerability assessment
• aRgus: multilevel visualization of non-synonymous single nucleotide variants & advanced pathogenicity score modeling for genetic vulnerability assessment
• Unmet Needs of Parents of Children with Urea Cycle Disorders
• Compound heterozygosis in AADC deficiency: A complex phenotype dissected through comparison among heterodimeric and homodimeric AADC proteins
• Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: data from the iNTD registry
• Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria
• Neue biochemische Methoden zur Diagnose des Aromatischen L-Aminosäure-Decarboxylase (AADC)-Mangels
• Empfehlungen zur intrazerebralen Gentherapie des Aromatischen L-Aminosäure- Decarboxylase-Mangels mit Eladocagene exuparvovec (Upstaza®)
• Movement Disorders and Inherited Metabolic Disorders (Edited by Darius Ebrahimi-Fakhari, Harvard Medical School, Phillip L. Pearl, Harvard Medical School)
• Succinic Semialdehyde Dehydrogenase Deficiency: In Vitro and In Silico Characterization of a Novel Pathogenic Missense Variant and Analysis of the Mutational Spectrum of ALDH5A1
• Semi-quantitative detection of a vanillactic acid/vanillylmandelic acid ratio in urine is a reliable diagnostic marker for aromatic L-amino acid decarboxylase deficiency
• The quantification of 3-O-methyldopa in dried blood spots enables high-throughput newborn screening for aromatic L-amino-acid decarboxylase deficiency
• Succinic Semialdehyde Dehydrogenase Deficiency: An Update
• High Throughput Newborn Screening for Aromatic L-amino-acid Decarboxylase Deficiency by Analysis of Concentrations of 3-O-methyldopa From Dried Blood Spots
• Induced pluripotent stem cells (iPSCs) and iPSC-derived cerebral organoids as a tool to model Succinic Semialdehyde Dehydrogenase Deficiency
• The use of patient-derived induced pluripotent stem cells (iPSCs) and iPSC-derived cerebral organoids to explore pathomechanisms of succinc semialdehyde dehydrogenase deficiency
• Inherited Disorders of Neurotransmitters: Classification and Practical Approaches for Diagnosis and Treatment