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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
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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.
- Published in:
- Pharmacology Research & Perspectives, 2019, v. 7, n. 1, p. 1, doi. 10.1002/prp2.456
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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
ALEXANDER DISEASE - ASTROGLIOPATHY CONSIDERED AS LEUKODYSTROPHY - EXPERIENCE OF AN INSTITUTION.
- Published in:
- Developmental Period Medicine, 2016, v. 20, n. 2, p. 110
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- Publication type:
- Article
Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms.
- Published in:
- 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
Epilepsy spectrum in cerebral creatine transporter deficiency.
- Published in:
- 2009
- By:
- Publication type:
- Letter
Two novel ALDH7A1 (antiquitin) splicing mutations associated with pyridoxine-dependent seizures.
- Published in:
- Epilepsia (Series 4), 2009, v. 50, n. 4, p. 933, doi. 10.1111/j.1528-1167.2008.01741.x
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- 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
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- Publication type:
- Article
Unraveling pathology in juvenile Alexander disease: serial quantitative MR imaging and spectroscopy of white matter.
- Published in:
- Neuroradiology, 2009, v. 51, n. 10, p. 669, doi. 10.1007/s00234-009-0540-9
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- 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
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- Publication type:
- Article
Mutational analysis of Bax and Bcl-2 in childhood acute lymphoblastic leukaemia.
- Published in:
- 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
The Baxα:Bcl-2 ratio modulates the response to dexamethasone in leukaemic cells and is highly variable in childhood acute leukaemia.
- Published in:
- 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
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
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
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
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- Publication type:
- Article
Guanidinoacetate methyltransferase (GAMT) deficiency diagnosed by proton NMR spectroscopy of body fluids.
- Published in:
- NMR in Biomedicine, 2009, v. 22, n. 5, p. 538, doi. 10.1002/nbm.1367
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- Publication type:
- Article
X-linked creatine transporter ( SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology.
- Published in:
- 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.
- Published in:
- Human Genetics, 2006, v. 119, n. 1/2, p. 137, doi. 10.1007/s00439-005-0116-7
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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
Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database.
- Published in:
- 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
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
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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
Ophthalmic acid is a glutathione regulating tripeptide.
- Published in:
- FEBS Journal, 2024, v. 291, n. 15, p. 3317, doi. 10.1111/febs.17061
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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
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
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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
Mild hemolytic anemia, progressive neuromotor retardation and fatal outcome: a disorder of glycolysis, triose-phosphate isomerase deficiency.
- Published in:
- Turkish Journal of Pediatrics, 2013, v. 55, n. 2, p. 198
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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.
- Published in:
- Clinical Chemistry, 2015, v. 61, n. 5, p. 760, doi. 10.1373/clinchem.2014.235564
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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.
- Published in:
- Clinical Genetics, 2021, v. 99, n. 4, p. 601, doi. 10.1111/cge.13893
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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.
- Published in:
- Annals of Neurology, 2014, v. 76, n. 1, p. 134, doi. 10.1002/ana.24167
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- Publication type:
- Article
IDH1 R132H decreases proliferation of glioma cell lines in vitro and in vivo.
- Published in:
- Annals of Neurology, 2011, v. 69, n. 3, p. 455, doi. 10.1002/ana.22390
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- Publication type:
- Article
Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy.
- Published in:
- Annals of Neurology, 2009, v. 65, n. 5, p. 550, doi. 10.1002/ana.21568
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- Publication type:
- Article
An intriguing 'silent' mutation and a founder effect in antiquitin (ALDH7A1).
- Published in:
- Annals of Neurology, 2007, v. 62, n. 4, p. 414, doi. 10.1002/ana.21206
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- Publication type:
- Article
Mutations in phenotypically mild D‐2‐hydroxyglutaric aciduria.
- Published in:
- Annals of Neurology, 2005, v. 58, n. 4, p. 626
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- Publication type:
- Article
Unusual variants of Alexander's disease.
- Published in:
- Annals of Neurology, 2005, v. 57, n. 3, p. 327
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- Publication type:
- Article
Lack of creatine in muscle and brain in an adult with GAMT deficiency.
- Published in:
- Annals of Neurology, 2003, v. 53, n. 2, p. 248
- By:
- Publication type:
- Article
X-linked creatine deficiency syndrome: A novel mutation in creatine transporter gene SLC6A8.
- Published in:
- Annals of Neurology, 2002, v. 52, n. 2, p. 227, doi. 10.1002/ana.10246
- By:
- Publication type:
- Article
Co-morbidity of Sanfilippo Syndrome type C and d-2-hydroxyglutaric aciduria.
- Published in:
- 2011
- By:
- Publication type:
- Letter
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
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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
- 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
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
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
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- 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
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- 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
Infantile-Onset Alexander Disease: A Genetically Proven Case With Mild Clinical Course in a 6-Year-Old Indian Boy.
- Published in:
- Journal of Child Neurology, 2013, v. 28, n. 3, p. 396, doi. 10.1177/0883073812444313
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- Publication type:
- Article