Found: 18
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Rescue of respiratory failure in pulmonary alveolar proteinosis due to pathogenic MARS1 variants.
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- Pediatric Pulmonology, 2020, v. 55, n. 11, p. 3057, doi. 10.1002/ppul.25031
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- Article
Refining Genotypes and Phenotypes in KCNA2 -Related Neurological Disorders.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 6, p. 2824, doi. 10.3390/ijms22062824
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- Article
Succinic Semialdehyde Dehydrogenase Deficiency: In Vitro and In Silico Characterization of a Novel Pathogenic Missense Variant and Analysis of the Mutational Spectrum of ALDH5A1.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 22, p. 8578, doi. 10.3390/ijms21228578
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- Article
Absence of the RING domain in MID1 results in patterning defects in the developing human brain.
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- Life Science Alliance, 2024, v. 7, n. 4, p. 1, doi. 10.26508/lsa.202302288
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- Article
Unmet Needs of Parents of Children with Urea Cycle Disorders.
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- Children, 2022, v. 9, n. 5, p. 712, doi. 10.3390/children9050712
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- Article
Hao‐Fountain syndrome: 32 novel patients reveal new insights into the clinical spectrum.
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- Clinical Genetics, 2024, v. 105, n. 5, p. 499, doi. 10.1111/cge.14480
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- Article
The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency.
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- Journal of Inherited Metabolic Disease, 2024, v. 47, n. 3, p. 447, doi. 10.1002/jimd.12723
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- Article
Gene therapy for aromatic L‐amino acid decarboxylase deficiency: Requirements for safe application and knowledge‐generating follow‐up.
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- Journal of Inherited Metabolic Disease, 2024, v. 47, n. 3, p. 463, doi. 10.1002/jimd.12649
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- Article
Assessment of intellectual impairment, health‐related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry.
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- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 6, p. 1489, doi. 10.1002/jimd.12416
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- Article
Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria.
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- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 5, p. 1272, doi. 10.1002/jimd.12412
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- Article
The "Young Metabolic Society": An interest group for young professionals in the field of metabolic medicine.
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- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 4, p. 789, doi. 10.1002/jimd.12409
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- Article
High throughput newborn screening for aromatic ʟ‐amino‐acid decarboxylase deficiency by analysis of concentrations of 3‐O‐methyldopa from dried blood spots.
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- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 3, p. 602, doi. 10.1002/jimd.12208
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- Article
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.
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- International Journal of Oncology, 2015, v. 47, n. 5, p. 1971, doi. 10.3892/ijo.2015.3159
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- Article
Wilson and Jungner Revisited: Are Screening Criteria Fit for the 21st Century?
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- International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 3, p. 62, doi. 10.3390/ijns10030062
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- Article
Succinic Semialdehyde Dehydrogenase Deficiency: An Update.
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- Cells (2073-4409), 2020, v. 9, n. 2, p. 477, doi. 10.3390/cells9020477
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- Article
Further evidence for de novo variants in SYNCRIP as the cause of a neurodevelopmental disorder.
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- Human Mutation, 2021, v. 42, n. 9, p. 1094, doi. 10.1002/humu.24245
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- Article
Genomisches Neugeborenenscreening – Forschungsansätze, Herausforderungen und Chancen.
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- Bundesgesundheitsblatt - Gesundheitsforschung - Gesundheitsschutz, 2023, v. 66, n. 11, p. 1232, doi. 10.1007/s00103-023-03777-2
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- Article
Sprachliche Auffälligkeiten bei Succinat-Semialdehyd-Dehydrogenase-Mangel - die Untersuchung der Sprache bei drei von SSADHD betroffenen Personen.
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- Praxis Sprache, 2023, n. 3, p. 157, doi. 10.2443/skv-s-2023-56020230302
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- Article