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Analysis by matrix assisted laser desorption/ ionisation-time of flight mass spectrometry of the post-translational modifications of α<sub>1</sub>-antitrypsin isoforms separated by two- dimensional polyacrylamide gel electrophoresis.
- Published in:
- Proteomics, 2001, v. 1, n. 6, p. 778, doi. 10.1002/1615-9861(200106)1:6<778::AID-PROT778>3.0.CO;2-H
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- Publication type:
- Article
Quality and stability of extemporaneous pyridoxal phosphate preparations used in the treatment of paediatric epilepsy.
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- Journal of Pharmacy & Pharmacology, 2017, v. 69, n. 4, p. 480, doi. 10.1111/jphp.12701
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- Publication type:
- Article
Mitochondrial HMG-CoA synthase deficiency: identification of two further patients carrying two novel mutations.
- Published in:
- European Journal of Pediatrics, 2003, v. 162, n. 4, p. 279, doi. 10.1007/s00431-002-1110-x
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- Publication type:
- Article
TRNT1 deficiency: clinical, biochemical and molecular genetic features.
- Published in:
- 2016
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- Publication type:
- journal article
HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase.
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- 2013
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- Publication type:
- journal article
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
- Published in:
- 2016
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- Publication type:
- journal article
Tissue Proteome of 2-Hydroxyacyl-CoA Lyase Deficient Mice Reveals Peroxisome Proliferation and Activation of ω-Oxidation.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 2, p. 987, doi. 10.3390/ijms23020987
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- Publication type:
- Article
Structural Determination of Lysosphingomyelin-509 and Discovery of Novel Class Lipids from Patients with Niemann–Pick Disease Type C.
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- International Journal of Molecular Sciences, 2019, v. 20, n. 20, p. 5018, doi. 10.3390/ijms20205018
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- Publication type:
- Article
Cholestenoic acids regulate motor neuron survival via liver X receptors.
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- Journal of Clinical Investigation, 2014, v. 124, n. 11, p. 4829, doi. 10.1172/JCI68506
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- Publication type:
- Article
The identification of unusual bile acid metabolites by tandem mass spectrometry: use of low-energy collision-induced dissociation to produce informative spectra.
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- Rapid Communications in Mass Spectrometry: RCM, 1999, v. 13, n. 12, p. 1159, doi. 10.1002/(SICI)1097-0231(19990630)13:12<1159::AID-RCM636>3.0.CO;2-#
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- Publication type:
- Article
Mutations in antiquitin in individuals with pyridoxine-dependent seizures.
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- Nature Medicine, 2006, v. 12, n. 3, p. 307, doi. 10.1038/nm1366
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- Publication type:
- Article
Mutations in the gene encoding peroxisomal α-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy.
- Published in:
- Nature Genetics, 2000, v. 24, n. 2, p. 188, doi. 10.1038/72861
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- Publication type:
- Article
Inborn errors of metabolism causing epilepsy.
- Published in:
- Developmental Medicine & Child Neurology, 2013, v. 55, n. 1, p. 23, doi. 10.1111/j.1469-8749.2012.04406.x
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- Publication type:
- Article
Seizures and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency.
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- Developmental Medicine & Child Neurology, 2010, v. 52, n. 7, p. e133, doi. 10.1111/j.1469-8749.2010.03660.x
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- Publication type:
- Article
The underglycosylation of plasma α1-antitrypsin in congenital disorders of glycosylation type I is not random.
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- Glycobiology, 2003, v. 13, n. 2, p. 73, doi. 10.1093/glycob/cwg026
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- Publication type:
- Article
Effect of intravenous lipid emulsions on hepatic cholesterol metabolism.
- Published in:
- 2000
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- Publication type:
- journal article
Sphincterotomy for jaundice in a neonate.
- Published in:
- 1996
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- Publication type:
- Case Study
Tubular aggregates caused by serine active site containing 1 ( SERAC1) mutations in a patient with a mitochondrial encephalopathy.
- Published in:
- Neuropathology & Applied Neurobiology, 2015, v. 41, n. 3, p. 399, doi. 10.1111/nan.12190
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- Publication type:
- Article
Quantitative Charge-Tags for Sterol and Oxysterol Analysis.
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- Clinical Chemistry, 2015, v. 61, n. 2, p. 400, doi. 10.1373/clinchem.2014.231332
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- Publication type:
- Article
Novel Mutations in X-Linked Dominant Chondrodysplasia Punctata (CDPX2).
- Published in:
- 2003
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- Publication type:
- Letter
An intriguing 'silent' mutation and a founder effect in antiquitin (ALDH7A1).
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- Annals of Neurology, 2007, v. 62, n. 4, p. 414, doi. 10.1002/ana.21206
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- Publication type:
- Article
Clinical and genetic spectrum of pyruvate dehydrogenase deficiency: Dihydrolipoamide acetyltransferase (E2) deficiency.
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- Annals of Neurology, 2005, v. 58, n. 2, p. 234
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- Publication type:
- Article
Pyridoxal 5′-phosphate deficiency causes a loss of aromatic l-amino acid decarboxylase in patients and human neuroblastoma cells, implications for aromatic l-amino acid decarboxylase and vitamin B<sub>6</sub> deficiency states.
- Published in:
- Journal of Neurochemistry, 2010, v. 114, n. 1, p. 87, doi. 10.1111/j.1471-4159.2010.06742.x
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- Publication type:
- Article
Consensus guidelines for the diagnosis and management of pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency.
- Published in:
- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 1, p. 178, doi. 10.1002/jimd.12332
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- Publication type:
- Article
Is susceptibility to severe COVID‐19 disease an inborn error of metabolism?
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- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 5, p. 906, doi. 10.1002/jimd.12280
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- Publication type:
- Article
Disorders affecting vitamin B<sub>6</sub> metabolism.
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- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 4, p. 629, doi. 10.1002/jimd.12060
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- Publication type:
- Article
Elevated Bile Acid 3β,5α,6β-Trihydroxycholanoyl Glycine in a Subset of Adult Ataxias Including Niemann–Pick Type C.
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- Antioxidants, 2024, v. 13, n. 5, p. 561, doi. 10.3390/antiox13050561
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- Publication type:
- Article
Pyridoxamine and pyridoxal are more effective than pyridoxine in rescuing folding-defective variants of human alanine:glyoxylate aminotransferase causing primary hyperoxaluria type I.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 19, p. 5500, doi. 10.1093/hmg/ddv276
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- Publication type:
- Article
Identification of novel bile acids as biomarkers for the early diagnosis of Niemann-Pick C disease.
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- FEBS Letters, 2016, v. 590, n. 11, p. 1651, doi. 10.1002/1873-3468.12196
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- Publication type:
- Article
Stomatocytic haemolysis and macrothrombocytopenia (Mediterranean stomatocytosis/macrothrombocytopenia) is the haematological presentation of phytosterolaemia.
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- British Journal of Haematology, 2005, v. 130, n. 2, p. 297, doi. 10.1111/j.1365-2141.2005.05599.x
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- Publication type:
- Article
Ten novel HMGCL mutations in 24 patients of different origin with 3-hydroxy-3-methyl-glutaric aciduria.
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- Human Mutation, 2009, v. 30, n. 3, p. E520, doi. 10.1002/humu.20966
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- Publication type:
- Article
Analysis of mutant DNA polymerase γ in patients with mitochondrial DNA depletion.
- Published in:
- Human Mutation, 2009, v. 30, n. 2, p. 248, doi. 10.1002/humu.20852
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- Publication type:
- Article
Genotype-phenotype correlation in PEX5-deficient peroxisome biogenesis defective cell lines.
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- Human Mutation, 2009, v. 30, n. 1, p. 93, doi. 10.1002/humu.20833
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- Publication type:
- Article
Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5′-phosphate oxidase.
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- Human Molecular Genetics, 2005, v. 14, n. 8, p. 1077, doi. 10.1093/hmg/ddi120
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- Publication type:
- Article
New Perspectives in Dried Blood Spot Biomarkers for Lysosomal Storage Diseases.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 12, p. 10177, doi. 10.3390/ijms241210177
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- Publication type:
- Article
Phenotypic variability in a dystonia family with mutations in the manganese transporter gene.
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- Movement Disorders, 2013, v. 28, n. 5, p. 685, doi. 10.1002/mds.25390
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- Publication type:
- Article
Dystonia with brain manganese accumulation resulting from SLC30A10 mutations: A new treatable disorder.
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- Movement Disorders, 2012, v. 27, n. 10, p. 1317, doi. 10.1002/mds.25138
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- Publication type:
- Article
Recessively Inherited L-DOPA-Responsive Parkinsonism In Infancy Caused by A Point Mutation (L205p) in the Tyrosine Hydroxylase Gene.
- Published in:
- Human Molecular Genetics, 1996, v. 5, n. 7, p. 1023, doi. 10.1093/hmg/5.7.1023
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- Publication type:
- Article