Latest

• Wilson and Jungner Revisited: Are Screening Criteria Fit for the 21st Century?
• Fast Facts: Aromatic L-Amino Decarboxylase Deficiency
• Comparative analysis of gene and disease selection in genomic newborn screening studies
• The continuously evolving phenotype of succinicsemialdehyde dehydrogenase deficiency
• Absence of the RING domain in MID1 results in patterning defects in the developing human brain
• Hao-Fountain syndrome: 32 novel patients reveal new insightsinto the clinical spectrum
• Genomisches Neugeborenenscreening – Forschungsansätze, Herausforderungen und Chancen
• Morbidity and mortality in Schaaf-Yang syndrome
• Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations
• 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
• Dynamic X-chromosomal reactivation enhances female brain resilience
• aRgus: Multilevel visualization of non-synonymous single nucleotide variants & advanced pathogenicity score modeling for genetic vulnerability assessment
• Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants
• aRgus: multilevel visualization of non-synonymous single nucleotide variants & advanced pathogenicity score modeling for genetic vulnerability assessment
• Genotypic and phenotypic spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency
• Unmet Needs of Parents of Children with Urea Cycle Disorders
• Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies
• Gene replacement therapy with onasemnogene abeparvovec in children with spinal muscular atrophy aged 24 months or younger and bodyweight up to 15 kg: an observational cohort study
• 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
• Further evidence for de novo variants in SYNCRIP as the cause of a neurodevelopmental disorder
• Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria
• The “Young Metabolic Society”: an interest group for young professionals in the field of metabolic medicine
• Patterns of extreme temperature-related catastrophic events in Europe including the Russian Federation: a cross-sectional analysis of the Emergency Events Database
• Refining genotypes and phenotypes in KCNA2-related neurological disorders
• 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®)
• Inherited Disorders of Biogenic Amines: A Pratical Guide (Edited by Nenad Blau and Georg F. Hoffmann)
• Movement Disorders and Inherited Metabolic Disorders (Edited by Darius Ebrahimi-Fakhari, Harvard Medical School, Phillip L. Pearl, Harvard Medical School)
• Vademecum Metabolicum: Diagnose und Therapie erblicher Stoffwechselkrankheiten, 5. Auflage, (Edited by Johannes Zschocke and Georg F. Hoffmann)
• Succinic Semialdehyde Dehydrogenase Deficiency: In Vitro and In Silico Characterization of a Novel Pathogenic Missense Variant and Analysis of the Mutational Spectrum of ALDH5A1
• The Economic Impact of Innovative Therapies for Rare Diseases on Healthcare Providers and the Healthcare System in Germany – The Example of Spinal Muscular Atrophy
• Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1
• 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
• IκBζ, an Atypical Member of the Inhibitor of Nuclear Factor Kappa B Family, Is Induced by γ-Irradiation in Glioma Cells, Regulating Cytokine Secretion and Associated With Poor Prognosis
• Modulation of Immune Responses by Histone Deacetylase Inhibitors