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Carnitine-acylcarnitine translocase deficiency: phenotype, residual enzyme activity and outcome.
- Published in:
- 2001
- By:
- Publication type:
- journal article
Secondary respiratory chain defect in a boy with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: possible diagnostic pitfalls.
- Published in:
- 2000
- By:
- Publication type:
- journal article
Cerebral palsy and pyruvate dehydrogenase deficiency: identification of two new mutations in the E1alpha gene.
- Published in:
- 1999
- By:
- Publication type:
- journal article
Stroke-like encephalopathy in an infant with 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency.
- Published in:
- 1998
- By:
- Publication type:
- journal article
A misdiagnosis of X-linked adrenoleukodystrophy in cultured chorionic villus cells by the measurement of very long chain fatty acids.
- Published in:
- 1995
- By:
- Publication type:
- journal article
Measurement of 3-hydroxy-3-methylglutaryl-CoA lyase activity in amniotic cells and in chorionic villi.
- Published in:
- 1988
- By:
- Publication type:
- Letter
The cerebro-hepato-renal (Zellweger) syndrome: prenatal detection based on impaired biosynthesis of plasmalogens.
- Published in:
- 1985
- By:
- Publication type:
- journal article
Complications in early diagnosis and treatment of two infants with long-chain fatty acid beta-oxidation defects.
- Published in:
- 2000
- By:
- Publication type:
- journal article
Abnormal myelin formation in rhizomelic chondrodysplasia punctata type 2 (DHAPAT-deficiency).
- Published in:
- 2000
- By:
- Publication type:
- journal article
Impact of artificial intelligence support on accuracy and reading time in breast tomosynthesis image interpretation: a multi-reader multi-case study.
- Published in:
- European Radiology, 2021, v. 31, n. 11, p. 8682, doi. 10.1007/s00330-021-07992-w
- By:
- Publication type:
- Article
One-view digital breast tomosynthesis as a stand-alone modality for breast cancer detection: do we need more?
- Published in:
- 2018
- By:
- Publication type:
- journal article
Pre-eclampsia in a woman whose child suffered from lethal carnitine-acylcarnitine translocase deficiency.
- Published in:
- BJOG: An International Journal of Obstetrics & Gynaecology, 2007, v. 114, n. 8, p. 1028, doi. 10.1111/j.1471-0528.2007.01411.x
- By:
- Publication type:
- Article
Mice with a deficiency in Peroxisomal Membrane Protein 4 (PXMP4) display mild changes in hepatic lipid metabolism.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-06479-y
- By:
- Publication type:
- Article
Effects of dietary fibre on subjective appetite, energy intake and body weight: a systematic review of randomized controlled trials.
- Published in:
- Obesity Reviews, 2011, v. 12, n. 9, p. 724, doi. 10.1111/j.1467-789X.2011.00895.x
- By:
- Publication type:
- Article
A newborn with VLCAD deficiency. Clinical, biochemical, and histopathological findings.
- Published in:
- 2007
- By:
- Publication type:
- journal article
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and early-onset liver cirrhosis in two siblings.
- Published in:
- European Journal of Pediatrics, 2000, v. 159, n. 1/2, p. 108, doi. 10.1007/s004310050022
- By:
- Publication type:
- Article
Succinyl-CoA:acetoacetate transferase deficiency: identification of a new patient with a neonatal onset and review of the literature.
- Published in:
- 1997
- By:
- Publication type:
- journal article
Succinyl-CoA:acetoacetate transferase deficiency: identification of a new patient with a neonatal onset and review of the literature.
- Published in:
- European Journal of Pediatrics, 1997, v. 156, n. 11, p. 870, doi. 10.1007/s004310050733
- By:
- Publication type:
- Article
NAD<sup>+</sup> homeostasis in human health and disease.
- Published in:
- EMBO Molecular Medicine, 2021, v. 13, n. 7, p. 1, doi. 10.15252/emmm.202113943
- By:
- Publication type:
- Article
The role of ELOVL1 in very long-chain fatty acid homeostasis and X-linked adrenoleukodystrophy.
- Published in:
- EMBO Molecular Medicine, 2010, v. 2, n. 3, p. 90, doi. 10.1002/emmm.201000061
- By:
- Publication type:
- Article
A non-enzymatic function of 17β-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival.
- Published in:
- EMBO Molecular Medicine, 2010, v. 2, n. 2, p. 51, doi. 10.1002/emmm.200900055
- By:
- Publication type:
- Article
Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders.
- Published in:
- Clinical Genetics, 2005, v. 67, n. 2, p. 107, doi. 10.1111/j.1399-0004.2004.00329.x
- By:
- Publication type:
- Article
Zellweger spectrum disorders: clinical overview and management approach.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Clinical and biochemical characterization of four patients with mutations in ECHS1.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0290-1
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- Publication type:
- Article
Clinical and biochemical characterization of four patients with mutations in ECHS1
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 79, doi. 10.1186/s13023-015-0290-1
- By:
- Publication type:
- Article
Clinical and biochemical characterization of four patients with mutations in ECHS1.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Arginine improves peroxisome functioning in cells from patients with a mild peroxisome biogenesis disorder.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-138
- By:
- Publication type:
- Article
Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-98
- By:
- Publication type:
- Article
An algorithm to predict phenotypic severity in mucopolysaccharidosis type I in the first month of life.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-99
- By:
- Publication type:
- Article
Genetic basis of hyperlysinemia.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-57
- By:
- Publication type:
- Article
HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase.
- Published in:
- 2013
- By:
- Publication type:
- journal article
An algorithm to predict phenotypic severity in mucopolysaccharidosis type I in the first month of life.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Arginine improves peroxisome functioning in cells from patients with a mild peroxisome biogenesis disorder.
- Published in:
- 2013
- By:
- Publication type:
- journal article
X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management.
- Published in:
- 2012
- By:
- Publication type:
- journal article
Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency.
- Published in:
- 2012
- By:
- Publication type:
- journal article
The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives.
- Published in:
- 2012
- By:
- Publication type:
- journal article
Specific combination of compound heterozygous mutations in 17βhydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency.
- Published in:
- Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 90, doi. 10.1186/1750-1172-7-90
- By:
- Publication type:
- Article
The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives.
- Published in:
- Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 83, doi. 10.1186/1750-1172-7-83
- By:
- Publication type:
- Article
Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study.
- Published in:
- Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 30, doi. 10.1186/1750-1172-7-30
- By:
- Publication type:
- Article
Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene.
- Published in:
- 2011
- By:
- Publication type:
- Case Study
A novel mutation of the ACADM gene (c.145C>G) associated with the common c.985A>G mutation on the other ACADM allele causes mild MCAD deficiency: a case report.
- Published in:
- 2010
- By:
- Publication type:
- Case Study
Reply: Age-dependent penetrance among females with X-linked adrenoleukodystrophy.
- Published in:
- Brain: A Journal of Neurology, 2015, v. 138, n. 2, p. e326, doi. 10.1093/brain/awu233
- By:
- Publication type:
- Article
A happier sequel to Lorenzo's Oil?
- Published in:
- Nature Medicine, 1998, v. 4, n. 11, p. 1245, doi. 10.1038/3225
- By:
- Publication type:
- Article
Molecular characterization of carnitine-dependent transport of acetyl-CoA from peroxisomes to mitochondria in Saccharomyces cerevisiae and identification of a plasma membrane carnitine transporter, Agp2p.
- Published in:
- EMBO Journal, 1999, v. 18, n. 21, p. 5843, doi. 10.1093/emboj/18.21.5843
- By:
- Publication type:
- Article
Peroxisomal ß-oxidation of polyunsaturated fatty acids in Saccharomyces cerevisiae: isocitrate dehydrogenase provides NADPH for reduction of double bonds at even positions.
- Published in:
- EMBO Journal, 1998, v. 17, n. 3, p. 677, doi. 10.1093/emboj/17.3.677
- By:
- Publication type:
- Article
Electrophysiological Abnormalities in VLCAD Deficient hiPSC-Cardiomyocytes Can Be Improved by Lowering Accumulation of Fatty Acid Oxidation Intermediates.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 7, p. 2589, doi. 10.3390/ijms21072589
- By:
- Publication type:
- Article
Peripheral nervous system plasmalogens regulate Schwann cell differentiation and myelination.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Peripheral nervous system plasmalogens regulate Schwann cell differentiation and myelination.
- Published in:
- Journal of Clinical Investigation, 2014, v. 124, n. 6, p. 2560, doi. 10.1172/JCI72063
- By:
- Publication type:
- Article
An UPLC-MS/MS Assay to Measure Glutathione as Marker for Oxidative Stress in Cultured Cells.
- Published in:
- Metabolites (2218-1989), 2019, v. 9, n. 3, p. 45, doi. 10.3390/metabo9030045
- By:
- Publication type:
- Article