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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.
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- 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
Percutaneous removal of sentinel lymph nodes in a swine model using a breast lesion excision system and contrast-enhanced ultrasound.
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- European Radiology, 2012, v. 22, n. 3, p. 545, doi. 10.1007/s00330-011-2293-1
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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
Beclin‐1‐mediated activation of autophagy improves proximal and distal urea cycle disorders.
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- EMBO Molecular Medicine, 2021, v. 13, n. 2, p. 1, doi. 10.15252/emmm.202013158
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- Publication type:
- Article
TRNT1 deficiency: clinical, biochemical and molecular genetic features.
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- 2016
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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
Characterization of Novel Pathogenic Variants Causing Pyridox(am)ine 5′-Phosphate Oxidase-Dependent Epilepsy.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 21, p. 12013, doi. 10.3390/ijms222112013
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- Publication type:
- Article
Urea Cycle Related Amino Acids Measured in Dried Bloodspots Enable Long-Term In Vivo Monitoring and Therapeutic Adjustment.
- Published in:
- Metabolites (2218-1989), 2019, v. 9, n. 11, p. 275, doi. 10.3390/metabo9110275
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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
Predictive factors for invasive cancer in surgical specimens following an initial diagnosis of ductal carcinoma in situ after stereotactic vacuum-assisted breast biopsy in microcalcification-only lesions.
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- 2016
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- Publication type:
- journal article
Seizures and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency.
- Published in:
- 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
Elevation of carotenoids in tomato by genetic manipulation.
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- Journal of the Science of Food & Agriculture, 2001, v. 81, n. 9, p. 822, doi. 10.1002/jsfa.908
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- Publication type:
- Article
A rare cause of breast mass that mimics carcinoma: Foreign body reaction to amorphous surgical material.
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- Wiener Klinische Wochenschrift, 2007, v. 119, n. 15/16, p. 497, doi. 10.1007/s00508-007-0835-y
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- Publication type:
- Article
Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome.
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- Brain: A Journal of Neurology, 2014, v. 137, n. 5, p. 1350, doi. 10.1093/brain/awu051
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- Publication type:
- Article
Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency).
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- Brain: A Journal of Neurology, 2010, v. 133, n. 7, p. 2148, doi. 10.1093/brain/awq143
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- Publication type:
- Article
RARS2 mutations in a sibship with infantile spasms.
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- Epilepsia (Series 4), 2016, v. 57, n. 5, p. e97, doi. 10.1111/epi.13358
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- Publication type:
- Article
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
Niemann-Pick type C disease as proof-of-concept for intelligent biomarker panel selection in neurometabolic disorders.
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- Developmental Medicine & Child Neurology, 2022, v. 64, n. 12, p. 1539, doi. 10.1111/dmcn.15334
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- Publication type:
- Article
Mouse models for inherited monoamine neurotransmitter disorders.
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- Journal of Inherited Metabolic Disease, 2024, v. 47, n. 3, p. 533, doi. 10.1002/jimd.12710
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- Publication type:
- Article
Free urinary glycosylated hydroxylysine as an indicator of altered collagen degradation in the mucopolysaccharidoses.
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- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 2, p. 309, doi. 10.1002/jimd.12166
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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
Mutations in SLC25A22: hyperprolinaemia, vacuolated fibroblasts and presentation with developmental delay.
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- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 3, p. 385, doi. 10.1007/s10545-017-0025-7
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- Publication type:
- Article
Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences.
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- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 3, p. 423, doi. 10.1007/s10545-017-0015-9
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- Publication type:
- Article
Liver disease in infancy caused by oxysterol 7α-hydroxylase deficiency: successful treatment with chenodeoxycholic acid.
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- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 5, p. 851, doi. 10.1007/s10545-014-9695-6
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- Publication type:
- Article
Measurement of plasma B vitamer profiles in children with inborn errors of vitamin B metabolism using an LC-MS/MS method.
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- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 1, p. 139, doi. 10.1007/s10545-012-9493-y
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- Publication type:
- Article
Urinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency.
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- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 6, p. 1031, doi. 10.1007/s10545-012-9466-1
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- Publication type:
- Article
Bile acid-CoA ligase deficiency-a new inborn error of bile acid metabolism.
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- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 3, p. 521, doi. 10.1007/s10545-011-9416-3
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- Publication type:
- Article
Pyridoxal 5'-phosphate in cerebrospinal fluid; factors affecting concentration.
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 2, p. 529, doi. 10.1007/s10545-011-9279-7
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- Publication type:
- Article
Hepatic cirrhosis, dystonia, polycythaemia and hypermanganesaemia—A new metabolic disorder.
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- Journal of Inherited Metabolic Disease, 2008, v. 31, n. 2, p. 151, doi. 10.1007/s10545-008-0813-1
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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.
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- Human Molecular Genetics, 2015, v. 24, n. 19, p. 5500, doi. 10.1093/hmg/ddv276
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- Publication type:
- Article
Argininosuccinic aciduria fosters neuronal nitrosative stress reversed by Asl gene transfer.
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- Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-05972-1
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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
MAN1B1 Deficiency: An Unexpected CDG-II.
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- PLoS Genetics, 2013, v. 9, n. 12, p. 1, doi. 10.1371/journal.pgen.1003989
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- Publication type:
- Article
Mutations in TRAPPC11 are associated with a congenital disorder of glycosylation.
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- Human Mutation, 2017, v. 38, n. 2, p. 148, doi. 10.1002/humu.23145
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- Publication type:
- Article
A new inborn error of glycosylation due to a Cog8 deficiency reveals a critical role for the Cog1–Cog8 interaction in COG complex formation.
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- Human Molecular Genetics, 2007, v. 16, n. 7, p. 717, doi. 10.1093/hmg/ddl476
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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.
- Published in:
- 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.
- Published in:
- Movement Disorders, 2012, v. 27, n. 10, p. 1317, doi. 10.1002/mds.25138
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- Publication type:
- Article