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Partial hypoparathyroidism associated with mitochondrial trifunctional protein deficiency.
- Published in:
- 2006
- By:
- Publication type:
- journal article
Multiple congenital anomalies in two fetuses with glutathione‐synthetase deficit (GSS).
- Published in:
- Clinical Genetics, 2024, v. 106, n. 6, p. 776, doi. 10.1111/cge.14613
- By:
- Publication type:
- Article
Hypervitaminosis A is associated with immunological non-response in HIV-1-infected adults: a case-control study.
- Published in:
- European Journal of Clinical Microbiology & Infectious Diseases, 2020, v. 39, n. 11, p. 2091, doi. 10.1007/s10096-020-03954-0
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- Publication type:
- Article
Liver and brain differential expression of one-carbon metabolism genes during ontogenesis.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-00311-9
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- Publication type:
- Article
New spastic paraplegia phenotype associated to mutation of NFU1.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0237-6
- By:
- Publication type:
- Article
Stilbenes and resveratrol metabolites improve mitochondrial fatty acid oxidation defects in human fibroblasts.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1750-1172-9-79
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- Publication type:
- Article
Stilbenes and resveratrol metabolites improve mitochondrial fatty acid oxidation defects in human fibroblasts.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-148
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- Publication type:
- Article
Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Ketogenic diet exhibits anti-inflammatory properties.
- Published in:
- Epilepsia (Series 4), 2015, v. 56, n. 7, p. e95, doi. 10.1111/epi.13038
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- Publication type:
- Article
Melatonin Levels in Preterm and Term Infants and Their Mothers.
- Published in:
- International Journal of Molecular Sciences, 2019, v. 20, n. 9, p. 2077, doi. 10.3390/ijms20092077
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- Publication type:
- Article
Methylmalonyl-CoA Epimerase Deficiency Mimicking Propionic Aciduria.
- Published in:
- 2017
- By:
- Publication type:
- Case Study
QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease.
- Published in:
- eLife, 2016, p. 1, doi. 10.7554/eLife.17163
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- Publication type:
- Article
Metabolomics Analysis of Rabbit Plasma after Ocular Exposure to Vapors of Sulfur Mustard.
- Published in:
- Metabolites (2218-1989), 2024, v. 14, n. 7, p. 349, doi. 10.3390/metabo14070349
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- Publication type:
- Article
Phosphoethanolamine normal range in pediatric urines for hypophosphatasia screening.
- Published in:
- Clinical Chemistry & Laboratory Medicine, 2012, v. 50, n. 12, p. 2231, doi. 10.1515/cclm-2012-0266
- By:
- Publication type:
- Article
Diagnostic biochimique des maladies héréditaires du métabolisme : profils métaboliques et difficultés de validation de méthode.
- Published in:
- 2020
- By:
- Publication type:
- Editorial
Une acidose pas si basique.
- Published in:
- Annales de Biologie Clinique, 2020, v. 78, n. 4, p. 417, doi. 10.1684/abc.2020.1573
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- Publication type:
- Article
Pancytopenia and megaloblastic erythropoiesis reveal a novel <italic>GIF</italic> mutation.
- Published in:
- British Journal of Haematology, 2018, v. 181, n. 3, p. 304, doi. 10.1111/bjh.15104
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- Publication type:
- Article
Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B<sub>12</sub>.
- Published in:
- Clinical Epigenetics, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13148-022-01271-1
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- Publication type:
- Article
Pathology Influences Blood Pressure Change following Vagal Stimulation in an Animal Intubation Model.
- Published in:
- PLoS ONE, 2013, v. 8, n. 8, p. 1, doi. 10.1371/journal.pone.0069957
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- Publication type:
- Article
Mouse Studies to Shape Clinical Trials for Mitochondrial Diseases: High Fat Diet in Harlequin Mice.
- Published in:
- PLoS ONE, 2011, v. 6, n. 12, p. 1, doi. 10.1371/journal.pone.0028823
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- Publication type:
- Article
Should Metabolic Diseases Be Systematically Screened in Nonsyndromic Autism Spectrum Disorders?
- Published in:
- PLoS ONE, 2011, v. 6, n. 7, p. 1, doi. 10.1371/journal.pone.0021932
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- Publication type:
- Article
Pharmacoresistant Epilepsy in Childhood: Think of the Cerebral Folate Deficiency, a Treatable Disease.
- Published in:
- Brain Sciences (2076-3425), 2020, v. 10, n. 11, p. 762, doi. 10.3390/brainsci10110762
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- Publication type:
- Article
Dietary anaplerotic therapy improves peripheral tissue energy metabolism in patients with Huntington's disease.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 9, p. 1057, doi. 10.1038/ejhg.2010.72
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- Publication type:
- Article
Misleading behavioural phenotype with adenylosuccinate lyase deficiency.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 1, p. 133, doi. 10.1038/ejhg.2008.174
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- Publication type:
- Article
N219Y, a new frequent mutation among mut° forms of methylmalonic acidemia in Caucasian patients.
- Published in:
- European Journal of Human Genetics, 2001, v. 9, n. 8, p. 577, doi. 10.1038/sj.ejhg.5200675
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- Publication type:
- Article
High homocysteine induces betaine depletion.
- Published in:
- Bioscience Reports, 2015, v. 35, n. 4, p. 1, doi. 10.1042/BSR20150094
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- Publication type:
- Article
Citrulline in the management of patients with urea cycle disorders.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02800-8
- By:
- Publication type:
- Article
Late-onset refractory hemolytic anemia in siblings treated for methionine synthase reductase deficiency: A rare complication possibly prevented by hydroxocobalamin dose escalation?
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2024, v. 65, n. 3, p. 163, doi. 10.1002/jmd2.12422
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- Publication type:
- Article
Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidence.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2020, v. 52, n. 1, p. 3, doi. 10.1002/jmd2.12092
- By:
- Publication type:
- Article
Adolescent-Onset and Adult-Onset Vitamin-Responsive Neurogenetic Diseases: A Review.
- Published in:
- JAMA Neurology, 2021, v. 78, n. 4, p. 483, doi. 10.1001/jamaneurol.2020.4911
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- Publication type:
- Article
Diagnostic contribution of metabolic workup for neonatal inherited metabolic disorders in the absence of expanded newborn screening.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-50518-0
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- Publication type:
- Article
Efficacy and pharmacokinetics of betaine in CBS and cblC deficiencies: a cross-over randomized controlled trial.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Deafness, Encephalopathy, and Lactic Acidosis: What If It Was an Inborn Metabolic Error?
- Published in:
- Clinical Chemistry, 2023, v. 69, n. 10, p. 1200, doi. 10.1093/clinchem/hvad114
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- Publication type:
- Article
Pregnancy in MNGIE: a clinical and metabolic honeymoon.
- Published in:
- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 12, p. 2484, doi. 10.1002/acn3.51202
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- Publication type:
- Article
Effect of urine alkalization on urinary inflammatory markers in cystinuric patients.
- Published in:
- Clinical Kidney Journal, 2024, v. 17, n. 3, p. 1, doi. 10.1093/ckj/sfae040
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- Publication type:
- Article
Genetic screening in thrombotic microangiopathy: a plea for methylmalonic aciduria with cobalamine C deficiency detection.
- Published in:
- Clinical Kidney Journal, 2023, v. 16, n. 11, p. 2299, doi. 10.1093/ckj/sfad094
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- Publication type:
- Article
Clinical and biochemical outcome of a patient with pyridoxine-dependent epilepsy treated by triple therapy (pyridoxine supplementation, lysine-restricted diet, and arginine supplementation).
- Published in:
- Acta Neurologica Belgica, 2021, v. 121, n. 6, p. 1669, doi. 10.1007/s13760-020-01467-3
- By:
- Publication type:
- Article
Long-term renal outcome in methylmalonic acidemia in adolescents and adults.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Detection of 28 neurotransmitters and related compounds in biological fluids by liquid chromatography/tandem mass spectrometry.
- Published in:
- Rapid Communications in Mass Spectrometry: RCM, 2006, v. 20, n. 9, p. 1405, doi. 10.1002/rcm.2459
- By:
- Publication type:
- Article
SLC13A3 variants cause acute reversible leukoencephalopathy and α-ketoglutarate accumulation.
- Published in:
- 2019
- By:
- Publication type:
- journal article
ShiF acts as an auxiliary factor of aerobactin secretion in meningitis Escherichia coli strain S88.
- Published in:
- BMC Microbiology, 2019, v. 19, n. 1, p. 1, doi. 10.1186/s12866-019-1677-2
- By:
- Publication type:
- Article
Very long‐term outcomes in 23 patients with cblA type methylmalonic acidemia.
- Published in:
- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 5, p. 937, doi. 10.1002/jimd.12525
- By:
- Publication type:
- Article
Clinical and molecular characterization of adult patients with late‐onset MTHFR deficiency.
- Published in:
- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 3, p. 777, doi. 10.1002/jimd.12323
- By:
- Publication type:
- Article
Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect.
- Published in:
- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 2, p. 415, doi. 10.1002/jimd.12314
- By:
- Publication type:
- Article
Nocturnal enteral nutrition is therapeutic for growth failure in Fanconi‐Bickel syndrome.
- Published in:
- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 3, p. 540, doi. 10.1002/jimd.12203
- By:
- Publication type:
- Article
Long‐term outcome of methylmalonic aciduria after kidney, liver, or combined liver‐kidney transplantation: The French experience.
- Published in:
- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 2, p. 234, doi. 10.1002/jimd.12174
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- Publication type:
- Article
Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis.
- Published in:
- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 3, p. 415, doi. 10.1007/s10545-017-0021-y
- By:
- Publication type:
- Article
Neurocognitive profiles in MSUD school-age patients.
- Published in:
- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 3, p. 377, doi. 10.1007/s10545-017-0033-7
- By:
- Publication type:
- Article
Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.
- Published in:
- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 1, p. 21, doi. 10.1007/s10545-016-9991-4
- By:
- Publication type:
- Article