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Preclinical tissue distribution and metabolic correlations of vigabatrin, an antiepileptic drug associated with potential use‐limiting visual field defects.
- Published in:
- Pharmacology Research & Perspectives, 2019, v. 7, n. 1, p. 1, doi. 10.1002/prp2.456
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- Publication type:
- Article
Development of a Quality-of-Life Survey for Patients With Succinic Semialdehyde Dehydrogenase Deficiency, a Rare Disorder of GABA Metabolism.
- Published in:
- Journal of Child Neurology, 2021, v. 36, n. 13/14, p. 1223, doi. 10.1177/08830738211028388
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- Publication type:
- Article
Proceedings of the International SSADH Deficiency 2020 Conference.
- Published in:
- 2021
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- Publication type:
- Editorial
Postmortem Analyses in a Patient With Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD): II. Histological, Lipid, and Gene Expression Outcomes in Regional Brain Tissue.
- Published in:
- Journal of Child Neurology, 2021, v. 36, n. 13/14, p. 1177, doi. 10.1177/0883073820987742
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- Publication type:
- Article
Succinic Semialdehyde Dehydrogenase Deficiency: Review of the Natural History Study.
- Published in:
- Journal of Child Neurology, 2021, v. 36, n. 13/14, p. 1153, doi. 10.1177/0883073820981262
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- Publication type:
- Article
Progress and perspectives in plant sterol and plant stanol research.
- Published in:
- Nutrition Reviews, 2018, v. 76, n. 10, p. 725, doi. 10.1093/nutrit/nuy032
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- Publication type:
- Article
Phenotypic correlates of structural and functional protein impairments resultant from ALDH5A1 variants.
- Published in:
- Human Genetics, 2023, v. 142, n. 12, p. 1755, doi. 10.1007/s00439-023-02613-6
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- Publication type:
- Article
Normal IQ is possible in Smith-Lemli-Opitz syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 8, p. 2097, doi. 10.1002/ajmg.a.38125
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- Publication type:
- Article
Correction to: Post-mortem tissue analyses in a patient with succinic semialdehyde dehydrogenase deficiency (SSADHD). I. Metabolomic outcomes.
- Published in:
- 2020
- By:
- Publication type:
- Correction Notice
Post-mortem tissue analyses in a patient with succinic semialdehyde dehydrogenase deficiency (SSADHD). I. Metabolomic outcomes.
- Published in:
- Metabolic Brain Disease, 2020, v. 35, n. 4, p. 601, doi. 10.1007/s11011-020-00550-1
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- Publication type:
- Article
Factors of increase in serum triglyceride-rich lipoproteins in uremic rats.
- Published in:
- Kidney International, 1985, v. 27, n. 2, p. 420, doi. 10.1038/ki.1985.26
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- Publication type:
- Article
Cellular and molecular outcomes of glutamine supplementation in the brain of succinic semialdehyde dehydrogenase‐deficient mice.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2020, v. 56, n. 1, p. 58, doi. 10.1002/jmd2.12151
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- Publication type:
- Article
Longitudinal metabolomics in dried bloodspots yields profiles informing newborn screening for succinic semialdehyde dehydrogenase deficiency.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2020, v. 53, n. 1, p. 29, doi. 10.1002/jmd2.12075
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- Publication type:
- Article
Reducing circulating levels of plant sterols by ezetimibe favorably increases platelet counts in sitosterolemia patients (117.7).
- Published in:
- FASEB Journal, 2014, v. 28, p. N.PAG, doi. 10.1096/fasebj.28.1_supplement.117.7
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- Publication type:
- Article
The presence and severity of epilepsy coincide with reduced γ‐aminobutyrate and cortical excitatory markers in succinic semialdehyde dehydrogenase deficiency.
- Published in:
- Epilepsia (Series 4), 2023, v. 64, n. 6, p. 1516, doi. 10.1111/epi.17592
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- Publication type:
- Article
Age‐related phenotype and biomarker changes in SSADH deficiency.
- Published in:
- Annals of Clinical & Translational Neurology, 2019, v. 6, n. 1, p. 114, doi. 10.1002/acn3.696
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- Publication type:
- Article
Novel biomarkers and age-related metabolite correlations in plasma and dried blood spots from patients with succinic semialdehyde dehydrogenase deficiency.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Autism spectrum disorder and GABA levels in children with succinic semialdehyde dehydrogenase deficiency.
- Published in:
- Developmental Medicine & Child Neurology, 2023, v. 65, n. 12, p. 1596, doi. 10.1111/dmcn.15659
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- Publication type:
- Article
Microbiota Manipulation as a Metagenomic Therapeutic Approach for Rare Inherited Metabolic Disorders.
- Published in:
- Clinical Pharmacology & Therapeutics, 2019, v. 106, n. 3, p. 505, doi. 10.1002/cpt.1503
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- Publication type:
- Article
Effects of dietary cholesterol and simvastatin on cholesterol absorption and synthesis (CAS) in Smith-Lemli-Opitz syndrome (SLOS).
- Published in:
- FASEB Journal, 2007, v. 21, n. 5, p. A340, doi. 10.1096/fasebj.21.5.a340-d
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- Publication type:
- Article
Succinic semialdehyde dehydrogenase deficiency in mice and in humans: An untargeted metabolomics perspective.
- Published in:
- Journal of Inherited Metabolic Disease, 2024, v. 47, n. 3, p. 417, doi. 10.1002/jimd.12657
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- Publication type:
- Article
Establishment and validation of a clinical severity scoring system for succinic semialdehyde dehydrogenase deficiency.
- Published in:
- Journal of Inherited Metabolic Disease, 2023, v. 46, n. 5, p. 992, doi. 10.1002/jimd.12635
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- Publication type:
- Article
Maternal glutamine supplementation in murine succinic semialdehyde dehydrogenase deficiency, a disorder of γ‐aminobutyric acid metabolism.
- Published in:
- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 5, p. 1030, doi. 10.1002/jimd.12107
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- Publication type:
- Article
Succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism: an update on pharmacological and enzyme-replacement therapeutic strategies.
- Published in:
- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 4, p. 699, doi. 10.1007/s10545-018-0153-8
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- Publication type:
- Article
No evidence for mevalonate shunting in moderately affected children with Smith-Lemli-Opitz syndrome.
- Published in:
- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 5, p. 859, doi. 10.1007/s10545-012-9453-6
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- Publication type:
- Article
Reduced evoked cortical beta and gamma activity and neuronal synchronization in succinic semialdehyde dehydrogenase deficiency, a disorder of ÷-aminobutyric acid metabolism.
- Published in:
- Brain Communications, 2023, v. 5, n. 6, p. 1, doi. 10.1093/braincomms/fcad291
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- Publication type:
- Article
Rett syndrome (MECP2) and succinic semialdehyde dehydrogenase (ALDH5A1) deficiency in a developmentally delayed female.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 5, p. N.PAG, doi. 10.1002/mgg3.629
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- Publication type:
- Article
Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder.
- Published in:
- Journal of Neurodevelopmental Disorders, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s11689-024-09538-9
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- Publication type:
- Article
Shared familial transmission of autism spectrum and attention-deficit/hyperactivity disorders.
- Published in:
- Journal of Child Psychology, 2014, v. 55, n. 7, p. 828, doi. 10.1111/jcpp.12201
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- Publication type:
- Article
Shared familial transmission of autism spectrum and attention-deficit/hyperactivity disorders.
- Published in:
- 2010
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- Publication type:
- Journal Article
Is There a Treatment Necessity for Lipid Disorders of Uremic Patients?
- Published in:
- Blood Purification, 1985, v. 3, n. 1-3, p. 42, doi. 10.1159/000169397
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- Publication type:
- Article
Genetically engineered Lactococcus lactis strain constitutively expresses GABA-producing genes and produces high levels of GABA.
- Published in:
- Letters in Applied Microbiology, 2024, v. 77, n. 6, p. 1, doi. 10.1093/lambio/ovae051
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- Publication type:
- Article
Glymphatic dysfunction coincides with lower GABA levels and sleep disturbances in succinic semialdehyde dehydrogenase deficiency.
- Published in:
- Journal of Sleep Research, 2024, v. 33, n. 4, p. 1, doi. 10.1111/jsr.14105
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- Publication type:
- Article
In vitro modeling of experimental succinic semialdehyde dehydrogenase deficiency (SSADHD) using brain-derived neural stem cells.
- Published in:
- PLoS ONE, 2017, v. 12, n. 10, p. 1, doi. 10.1371/journal.pone.0186919
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- Publication type:
- Article
Effects of FK506 in rat and human resistance arteries.
- Published in:
- Kidney International, 1999, v. 55, n. 4, p. 1518, doi. 10.1046/j.1523-1755.1999.00366.x
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- Publication type:
- Article
Recent advances in factors that alter lipid metabolism in chronic renal failure.
- Published in:
- Kidney International Supplement, 1983, n. 16, p. S134
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- Publication type:
- Article