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Alexander disease causing hereditary late-onset ataxia with only minimal white matter changes: A report of two sibs.
- Published in:
- Movement Disorders, 2008, v. 23, n. 11, p. 1613, doi. 10.1002/mds.22053
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- Publication type:
- Article
X-linked creatine transporter ( SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology.
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- Human Genetics, 2006, v. 119, n. 6, p. 604, doi. 10.1007/s00439-006-0162-9
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- Publication type:
- Article
Propensity for paternal inheritance of de novo mutations in Alexander disease.
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- Human Genetics, 2006, v. 119, n. 1/2, p. 137, doi. 10.1007/s00439-005-0116-7
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- Publication type:
- Article
Preclinical tissue distribution and metabolic correlations of vigabatrin, an antiepileptic drug associated with potential use‐limiting visual field defects.
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- Pharmacology Research & Perspectives, 2019, v. 7, n. 1, p. 1, doi. 10.1002/prp2.456
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- Publication type:
- Article
Mutational analysis of Bax and Bcl-2 in childhood acute lymphoblastic leukaemia.
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- International Journal of Cancer, 1998, v. 79, n. 3, p. 273, doi. 10.1002/(SICI)1097-0215(19980619)79:3<273::AID-IJC11>3.0.CO;2-9
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- Publication type:
- Article
IDH1-mutated transgenic zebrafish lines: An in-vivo model for drug screening and functional analysis.
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- PLoS ONE, 2018, v. 13, n. 6, p. 1, doi. 10.1371/journal.pone.0199737
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- Publication type:
- Article
Promiscuous activity of arginine:glycine amidinotransferase is responsible for the synthesis of the novel cardiovascular risk factor homoarginine
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- FEBS Letters, 2012, v. 586, n. 20, p. 3653, doi. 10.1016/j.febslet.2012.08.020
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- Publication type:
- Article
Ophthalmic acid is a glutathione regulating tripeptide.
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- FEBS Journal, 2024, v. 291, n. 15, p. 3317, doi. 10.1111/febs.17061
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- Publication type:
- Article
Metachromatic leukodystrophy genotypes in The Netherlands reveal novel pathogenic ARSA variants in non-Caucasian patients.
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- Neurogenetics, 2020, v. 21, n. 4, p. 289, doi. 10.1007/s10048-020-00621-6
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- Publication type:
- Article
Guanidinoacetate methyltransferase (GAMT) deficiency diagnosed by proton NMR spectroscopy of body fluids.
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- NMR in Biomedicine, 2009, v. 22, n. 5, p. 538, doi. 10.1002/nbm.1367
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- Publication type:
- Article
Is impaired energy production a novel insight into the pathogenesis of pyridoxine-dependent epilepsy due to biallelic variants in ALDH7A1?
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- PLoS ONE, 2021, v. 16, n. 9, p. 1, doi. 10.1371/journal.pone.0257073
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- Publication type:
- Article
Recessive ITPA mutations cause an early infantile encephalopathy.
- Published in:
- 2015
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- Publication type:
- journal article
Mutations in RARS cause hypomyelination.
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- Annals of Neurology, 2014, v. 76, n. 1, p. 134, doi. 10.1002/ana.24167
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- Publication type:
- Article
Heterogenous Clinical Landscape in a Consanguineous Malonic Aciduria Family.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 23, p. 12633, doi. 10.3390/ijms222312633
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- Publication type:
- Article
X-linked creatine transporter deficiency.
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- Neurogenetics, 2005, v. 6, n. 3, p. 165, doi. 10.1007/s10048-005-0002-4
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- 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
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- Publication type:
- Article
The Baxα:Bcl-2 ratio modulates the response to dexamethasone in leukaemic cells and is highly variable in childhood acute leukaemia.
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- International Journal of Cancer, 1997, v. 71, n. 6, p. 959, doi. 10.1002/(SICI)1097-0215(19970611)71:6<959::AID-IJC9>3.0.CO;2-X
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- Publication type:
- Article
Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database.
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- European Journal of Human Genetics, 2011, v. 19, n. 1, p. 56, doi. 10.1038/ejhg.2010.134
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- Publication type:
- Article
Unraveling pathology in juvenile Alexander disease: serial quantitative MR imaging and spectroscopy of white matter.
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- Neuroradiology, 2009, v. 51, n. 10, p. 669, doi. 10.1007/s00234-009-0540-9
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- Publication type:
- Article
Infantile Liver Failure Syndrome 1 associated with a novel variant of the LARS1 gene: Clinical, genetic, and functional characterization.
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- Clinical Genetics, 2021, v. 99, n. 4, p. 601, doi. 10.1111/cge.13893
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- Publication type:
- Article
Mild hemolytic anemia, progressive neuromotor retardation and fatal outcome: a disorder of glycolysis, triose-phosphate isomerase deficiency.
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- Turkish Journal of Pediatrics, 2013, v. 55, n. 2, p. 198
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- Publication type:
- Article
Author Correction: Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly.
- Published in:
- 2021
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- Publication type:
- Correction Notice
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
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- Publication type:
- Article
Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms.
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- Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 96, doi. 10.1186/1750-1172-7-96
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- Publication type:
- Article
Sex‐specific newborn screening for X‐linked adrenoleukodystrophy.
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- Journal of Inherited Metabolic Disease, 2023, v. 46, n. 1, p. 116, doi. 10.1002/jimd.12571
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- Publication type:
- Article
Maternal glutamine supplementation in murine succinic semialdehyde dehydrogenase deficiency, a disorder of γ‐aminobutyric acid metabolism.
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- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 5, p. 1030, doi. 10.1002/jimd.12107
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- Publication type:
- Article
The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy.
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- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 2, p. 353, doi. 10.1002/jimd.12045
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- Publication type:
- Article
Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: Update of 34 patients.
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- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 1, p. 147, doi. 10.1002/jimd.12036
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- Publication type:
- Article
Sudden unexpected death in an infant with L-2-hydroxyglutaric aciduria.
- Published in:
- 2009
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- Publication type:
- journal article
Global developmental delay in guanidionacetate methyltransferase deficiency: differences in formal testing and clinical observation.
- Published in:
- 2007
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- Publication type:
- journal 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
Characterization of the first knock-out aldh7a1 zebrafish model for pyridoxine-dependent epilepsy using CRISPR-Cas9 technology.
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- PLoS ONE, 2017, v. 12, n. 10, p. 1, doi. 10.1371/journal.pone.0186645
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- 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.
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- Clinical Chemistry, 2015, v. 61, n. 5, p. 760, doi. 10.1373/clinchem.2014.235564
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- Publication type:
- Article
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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- Publication type:
- Article
Functional characterization of missense variants in the creatine transporter gene ( SLC6A8): improved diagnostic application.
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- Human Mutation, 2007, v. 28, n. 9, p. 890, doi. 10.1002/humu.20532
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- Publication type:
- Article
Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency(Communicated by Johannes Zschocke).
- Published in:
- Human Mutation, 2003, v. 22, n. 6, p. 442, doi. 10.1002/humu.10288
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- Publication type:
- Article
Longitudinal metabolomics in dried bloodspots yields profiles informing newborn screening for succinic semialdehyde dehydrogenase deficiency.
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- 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
Phenotypes and genotypes of mitochondrial aminoacyl‐tRNA synthetase deficiencies from a single neurometabolic clinic.
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- Journal of Inherited Metabolic Disease Reports, 2020, v. 51, n. 1, p. 3, doi. 10.1002/jmd2.12079
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- 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
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- Publication type:
- Article
ALEXANDER DISEASE - ASTROGLIOPATHY CONSIDERED AS LEUKODYSTROPHY - EXPERIENCE OF AN INSTITUTION.
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- Developmental Period Medicine, 2016, v. 20, n. 2, p. 110
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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
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- 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
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
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- Publication type:
- Article
Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy.
- Published in:
- 2013
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- Publication type:
- Journal Article
Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy.
- Published in:
- Brain: A Journal of Neurology, 2013, v. 136, n. 5, p. 1534, doi. 10.1093/brain/awt054
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- Publication type:
- Article
Exocytotic release of creatine in rat brain.
- Published in:
- Synapse, 2006, v. 60, n. 2, p. 118, doi. 10.1002/syn.20280
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- Publication type:
- Article
Typical and atypical phenotypes of PNPO deficiency with elevated CSF and plasma pyridoxamine on treatment.
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- Developmental Medicine & Child Neurology, 2014, v. 56, n. 5, p. 498, doi. 10.1111/dmcn.12346
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- Publication type:
- Article
Co-morbidity of Sanfilippo Syndrome type C and d-2-hydroxyglutaric aciduria.
- Published in:
- 2011
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- Publication type:
- Letter
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
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- 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
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- Publication type:
- Article