Found: 100
Select item for more details and to access through your institution.
Ophthalmic acid is a glutathione regulating tripeptide.
- Published in:
- FEBS Journal, 2024, v. 291, n. 15, p. 3317, doi. 10.1111/febs.17061
- By:
- Publication type:
- Article
Sex‐specific newborn screening for X‐linked adrenoleukodystrophy.
- Published in:
- Journal of Inherited Metabolic Disease, 2023, v. 46, n. 1, p. 116, doi. 10.1002/jimd.12571
- By:
- Publication type:
- Article
WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephaly.
- Published in:
- Human Mutation, 2022, v. 43, n. 10, p. 1454, doi. 10.1002/humu.24430
- By:
- Publication type:
- Article
Identification of three novel pathogenic mutations in cystathionine beta-synthase gene of Pakistani intellectually disabled patients.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2022, v. 35, n. 3, p. 325, doi. 10.1515/jpem-2021-0508
- By:
- Publication type:
- Article
A bi‐allelic loss‐of‐function SARS1 variant in children with neurodevelopmental delay, deafness, cardiomyopathy, and decompensation during fever.
- Published in:
- Human Mutation, 2021, v. 42, n. 12, p. 1576, doi. 10.1002/humu.24285
- By:
- Publication type:
- Article
Heterogenous Clinical Landscape in a Consanguineous Malonic Aciduria Family.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 23, p. 12633, doi. 10.3390/ijms222312633
- By:
- Publication type:
- Article
Fetal akinesia deformation sequence and massive perivillous fibrin deposition resulting in fetal death in six fetuses from one consanguineous couple, including literature review.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 11, p. 1, doi. 10.1002/mgg3.1827
- By:
- Publication type:
- Article
Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy.
- Published in:
- Human Molecular Genetics, 2021, v. 30, n. 18, p. 1711, doi. 10.1093/hmg/ddab123
- By:
- Publication type:
- Article
Is impaired energy production a novel insight into the pathogenesis of pyridoxine-dependent epilepsy due to biallelic variants in ALDH7A1?
- Published in:
- PLoS ONE, 2021, v. 16, n. 9, p. 1, doi. 10.1371/journal.pone.0257073
- By:
- Publication type:
- Article
Preemptive screening of DPYD as part of clinical practice: high prevalence of a novel exon 4 deletion in the Finnish population.
- Published in:
- Cancer Chemotherapy & Pharmacology, 2021, v. 87, n. 5, p. 657, doi. 10.1007/s00280-021-04236-y
- By:
- Publication type:
- Article
Infantile Liver Failure Syndrome 1 associated with a novel variant of the LARS1 gene: Clinical, genetic, and functional characterization.
- Published in:
- Clinical Genetics, 2021, v. 99, n. 4, p. 601, doi. 10.1111/cge.13893
- By:
- Publication type:
- Article
Author Correction: Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly.
- Published in:
- 2021
- By:
- Publication type:
- Correction Notice
A Hypomorphic Dars1 <sup> D 367 Y </sup> Model Recapitulates Key Aspects of the Leukodystrophy HBSL.
- Published in:
- Frontiers in Cellular Neuroscience, 2021, v. 15, p. N.PAG, doi. 10.3389/fncel.2020.625879
- By:
- Publication type:
- Article
Rescue of respiratory failure in pulmonary alveolar proteinosis due to pathogenic MARS1 variants.
- Published in:
- Pediatric Pulmonology, 2020, v. 55, n. 11, p. 3057, doi. 10.1002/ppul.25031
- By:
- Publication type:
- Article
Metachromatic leukodystrophy genotypes in The Netherlands reveal novel pathogenic ARSA variants in non-Caucasian patients.
- Published in:
- Neurogenetics, 2020, v. 21, n. 4, p. 289, doi. 10.1007/s10048-020-00621-6
- By:
- Publication type:
- Article
Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly.
- Published in:
- Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-020-17454-4
- By:
- 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
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
- By:
- Publication type:
- Article
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
- By:
- Publication type:
- Article
Phenotypes and genotypes of mitochondrial aminoacyl‐tRNA synthetase deficiencies from a single neurometabolic clinic.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2020, v. 51, n. 1, p. 3, doi. 10.1002/jmd2.12079
- By:
- 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
- By:
- Publication type:
- Article
D‐2‐hydroxyglutaric aciduria Type I: Functional analysis of D2HGDH missense variants.
- Published in:
- Human Mutation, 2019, v. 40, n. 7, p. 975, doi. 10.1002/humu.23751
- By:
- Publication type:
- Article
The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy.
- Published in:
- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 2, p. 353, doi. 10.1002/jimd.12045
- By:
- Publication type:
- Article
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
- By:
- Publication type:
- Article
Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: Update of 34 patients.
- Published in:
- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 1, p. 147, doi. 10.1002/jimd.12036
- By:
- Publication type:
- Article
TMOD-25. MODELING IDH1-MUTATED GLIOMAS: GENERATION, CHARACTERIZATION AND THERAPEUTIC SENSITIVITIES OF SEVEN PATIENT-DERIVED IDH1-MUTANT GLIOMA CELL LINES.
- Published in:
- Neuro-Oncology, 2018, v. 20, p. vi274, doi. 10.1093/neuonc/noy148.1137
- By:
- Publication type:
- Article
IDH1-mutated transgenic zebrafish lines: An in-vivo model for drug screening and functional analysis.
- Published in:
- PLoS ONE, 2018, v. 13, n. 6, p. 1, doi. 10.1371/journal.pone.0199737
- By:
- Publication type:
- Article
Treatment outcome of creatine transporter deficiency: international retrospective cohort study.
- Published in:
- Metabolic Brain Disease, 2018, v. 33, n. 3, p. 875, doi. 10.1007/s11011-018-0197-3
- By:
- Publication type:
- Article
The acute effect of beta-guanidinopropionic acid versus creatine or placebo in healthy men (ABC-Trial): A randomized controlled first-in-human trial.
- Published in:
- British Journal of Clinical Pharmacology, 2017, v. 83, n. 12, p. 2626, doi. 10.1111/bcp.13390
- By:
- 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
- By:
- Publication type:
- Article
Characterization of the first knock-out aldh7a1 zebrafish model for pyridoxine-dependent epilepsy using CRISPR-Cas9 technology.
- Published in:
- PLoS ONE, 2017, v. 12, n. 10, p. 1, doi. 10.1371/journal.pone.0186645
- By:
- Publication type:
- Article
Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity.
- Published in:
- Human Mutation, 2017, v. 38, n. 5, p. 524, doi. 10.1002/humu.23181
- By:
- Publication type:
- Article
A small molecule inhibitor of mutant IDH2 rescues cardiomyopathy in a D-2-hydroxyglutaric aciduria type II mouse model.
- Published in:
- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 6, p. 807, doi. 10.1007/s10545-016-9960-y
- By:
- Publication type:
- Article
Phenotyping GABA transaminase deficiency: a case description and literature review.
- Published in:
- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 5, p. 743, doi. 10.1007/s10545-016-9951-z
- By:
- Publication type:
- Article
ALEXANDER DISEASE - ASTROGLIOPATHY CONSIDERED AS LEUKODYSTROPHY - EXPERIENCE OF AN INSTITUTION.
- Published in:
- Developmental Period Medicine, 2016, v. 20, n. 2, p. 110
- By:
- Publication type:
- Article
Small aminothiol compounds improve the function of Arg to Cys variant proteins: effect on the human cystathionine β-synthase p.R336C.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 25, p. 7339, doi. 10.1093/hmg/ddv431
- By:
- Publication type:
- Article
Carrier frequency of guanidinoacetate methyltransferase deficiency in the general population by functional characterization of missense variants in the GAMT gene.
- Published in:
- Molecular Genetics & Genomics, 2015, v. 290, n. 6, p. 2163, doi. 10.1007/s00438-015-1067-x
- By:
- Publication type:
- Article
Recessive ITPA mutations cause an early infantile encephalopathy.
- Published in:
- 2015
- By:
- Publication type:
- journal article
First two unrelated cases of isolated sedoheptulokinase deficiency: A benign disorder?
- Published in:
- Journal of Inherited Metabolic Disease, 2015, v. 38, n. 5, p. 889, doi. 10.1007/s10545-014-9809-1
- By:
- Publication type:
- Article
Torin 1 partially corrects vigabatrin-induced mitochondrial increase in mouse.
- Published in:
- Annals of Clinical & Translational Neurology, 2015, v. 2, n. 6, p. 699, doi. 10.1002/acn3.200
- By:
- Publication type:
- Article
Continuous Age- and Sex-Adjusted Reference Intervals of Urinary Markers for Cerebral Creatine Deficiency Syndromes: A Novel Approach to the Definition of Reference Intervals.
- Published in:
- Clinical Chemistry, 2015, v. 61, n. 5, p. 760, doi. 10.1373/clinchem.2014.235564
- By:
- Publication type:
- Article
Clinical and molecular characteristics of two transaldolase-deficient patients.
- Published in:
- European Journal of Pediatrics, 2014, v. 173, n. 12, p. 1679, doi. 10.1007/s00431-014-2261-2
- By:
- Publication type:
- Article
Malonic aciduria: long-term follow-up of new patients detected by newborn screening.
- Published in:
- European Journal of Pediatrics, 2014, v. 173, n. 12, p. 1719, doi. 10.1007/s00431-014-2421-4
- By:
- Publication type:
- Article
Insights into the Regulatory Domain of Cystathionine Beta-Synthase: Characterization of Six Variant Proteins.
- Published in:
- Human Mutation, 2014, v. 35, n. 10, p. 1195, doi. 10.1002/humu.22616
- By:
- Publication type:
- Article
RNA Sequencing of Creatine Transporter ( SLC6 A8) Deficient Fibroblasts Reveals Impairment of the Extracellular Matrix.
- Published in:
- Human Mutation, 2014, v. 35, n. 9, p. 1128, doi. 10.1002/humu.22609
- By:
- Publication type:
- Article
X-linked creatine transporter deficiency: clinical aspects and pathophysiology.
- Published in:
- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 5, p. 715, doi. 10.1007/s10545-014-9713-8
- By:
- Publication type:
- Article
Combined D2-/L2-hydroxyglutaric aciduria ( SLC25A1 deficiency): clinical course and effects of citrate treatment.
- Published in:
- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 5, p. 775, doi. 10.1007/s10545-014-9702-y
- By:
- Publication type:
- Article
Mutations in RARS cause hypomyelination.
- Published in:
- Annals of Neurology, 2014, v. 76, n. 1, p. 134, doi. 10.1002/ana.24167
- By:
- Publication type:
- Article
Typical and atypical phenotypes of PNPO deficiency with elevated CSF and plasma pyridoxamine on treatment.
- Published in:
- Developmental Medicine & Child Neurology, 2014, v. 56, n. 5, p. 498, doi. 10.1111/dmcn.12346
- By:
- Publication type:
- Article
Human pyrroline-5-carboxylate reductase (PYCR1) acts on Δ-piperideine-6-carboxylate generating L-pipecolic acid.
- Published in:
- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 3, p. 327, doi. 10.1007/s10545-013-9673-4
- By:
- Publication type:
- Article