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D-2-Hydroxyglutaric Aciduria in a Patient with a Severe Clinical Phenotype and Unusual MRI Findings.
- Published in:
- Journal of Inherited Metabolic Disease, 2002, v. 25, n. 1, p. 28, doi. 10.1023/A:1015165212965
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- Article
Plasma creatinine assessment in creatine deficiency: A diagnostic pitfall.
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- Journal of Inherited Metabolic Disease, 2000, v. 23, n. 8, p. 835, doi. 10.1023/A:1026764703486
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- Publication type:
- Article
Phytanic acid α-oxidation in man: Identification of 2-hydroxyphytanoyl-CoA lyase, a peroxisomal enzyme with normal activity in Zellweger syndrome.
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- Journal of Inherited Metabolic Disease, 2000, v. 23, n. 4, p. 421, doi. 10.1023/A:1005672406773
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- Article
Retrospective diagnosis of carbohydrate-deficient glycoprotein syndrome type Ib.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 8, p. 936, doi. 10.1023/A:1005699725822
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- Article
Spontaneous pregnancy in a patient with classical galactosaemia.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 6, p. 754, doi. 10.1023/A:1005504403173
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- Publication type:
- Article
Enantiomeric analysis of D- and L-pipecolic acid in plasma using a chiral capillary gas chromatography column and mass fragmentography.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 5, p. 677, doi. 10.1023/A:1005558903769
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- Publication type:
- Article
4-Aminobutyrate aminotransferase (GABA-transaminase) deficiency.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 4, p. 414, doi. 10.1023/A:1005500122231
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- Article
D-2-Hydroxyglutaric aciduria: Further clinical delineation.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 4, p. 404, doi. 10.1023/A:1005548005393
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- Article
Glutaric aciduria type I: Pathomechanisms of neurodegeneration.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 4, p. 392, doi. 10.1023/A:1005595921323
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- Article
Prenatal diagnosis of Canavan disease — Problems and dilemmas.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 3, p. 263, doi. 10.1023/A:1005534105933
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- Publication type:
- Article
Studies on the oxidation of phytanic acid and pristanic acid in human fibroblasts by acylcarnitine analysis.
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- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 7, p. 753, doi. 10.1023/A:1005449200468
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- Publication type:
- Article
The metabolism of phytanic acid and pristanic acid in man: A review.
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- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 7, p. 697, doi. 10.1023/A:1005476631419
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- Publication type:
- Article
The effect of fasting, long-chain triglyceride load and carnitine load on plasma long-chain acylcarnitine levels in mitochondrial very long-chain acyl-CoA dehydrogenase deficiency.
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- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 4, p. 391, doi. 10.1023/A:1005354624735
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- Publication type:
- Article
Lipoxygenase metabolites in amniotic fluid of patients with Zellweger syndrome.
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- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 3, p. 292, doi. 10.1023/A:1005340811106
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- Publication type:
- Article
Molecular basis of Refsum disease: Identification of new mutations in the phytanoyl-CoA hydroxylase cDNA.
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- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 3, p. 288, doi. 10.1023/A:1005388710197
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- Publication type:
- Article
Unusual enzyme findings in five patients with metabolic profiles suggestive of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria).
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- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 3, p. 255, doi. 10.1023/A:1005368106563
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- Article
L-2-Hydroxyglutaric aciduria and lactic acidosis.
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- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 3, p. 251, doi. 10.1023/A:1005316121584
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- Publication type:
- Article
D-2-Hydroxyglutaric aciduria: Evidence of clinical and biochemical heterogeneity.
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- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 3, p. 247, doi. 10.1023/A:1005364004746
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- Article
Fatal neonatal malonic aciduria.
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- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 1, p. 76, doi. 10.1023/A:1005371616609
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- Publication type:
- Article
L-2-Hydroxyglutaric aciduria: Normal L-2-hydroxyglutarate dehydrogenase activity in liver from two new patients.
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- Journal of Inherited Metabolic Disease, 1997, v. 20, n. 5, p. 725, doi. 10.1023/A:1005355316599
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- Publication type:
- Article
A new peroxisomal β-oxidation disorder in twin neonates: Defective oxidation of both cerotic and pristanic acids.
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- Journal of Inherited Metabolic Disease, 1997, v. 20, n. 5, p. 658, doi. 10.1023/A:1005318308422
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- Publication type:
- Article
Formation of 2,3-pristenic acid and 3-hydroxypristanic acid from pristanic acid in human liver.
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- Journal of Inherited Metabolic Disease, 1997, v. 20, n. 3, p. 441, doi. 10.1023/A:1005375222568
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- Publication type:
- Article
Broad specificity of carnitine palmitoyltransferase II towards long-chain acyl-CoA β-oxidation intermediates and its practical approach to the synthesis of various long-chain acylcarnitines.
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- Journal of Inherited Metabolic Disease, 1997, v. 20, n. 3, p. 423, doi. 10.1023/A:1005315003913
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- Publication type:
- Article
Differing clinical presentation of succinic semialdehyde dehydrogenase deficiency in adolescent siblings from Lifu Island, New Caledonia.
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- Journal of Inherited Metabolic Disease, 1997, v. 20, n. 3, p. 370, doi. 10.1023/A:1005334129412
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- Publication type:
- Article
Valproate inhibits the mitochondrial pyruvate-driven oxidative phosphorylation in vitro.
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- Journal of Inherited Metabolic Disease, 1997, v. 20, n. 3, p. 397, doi. 10.1023/A:1005398516208
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- Publication type:
- Article
Nerve cell lesions caused by 3-hydroxyglutaric acid: A possible mechanism for neurodegeneration in glutaric acidaemia I.
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- Journal of Inherited Metabolic Disease, 1997, v. 20, n. 3, p. 387, doi. 10.1023/A:1005342331229
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- Publication type:
- Article
Phytanoyl-CoA hydroxylase is not only deficient in classical Refsum disease but also in rhizomelic chondrodysplasia punctata.
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- Journal of Inherited Metabolic Disease, 1997, v. 20, n. 3, p. 444, doi. 10.1023/A:1005379406639
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- Publication type:
- Article
Carnitine-acylcarnitine translocase deficiency: phenotype, residual enzyme activity and outcome.
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- 2001
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- Publication type:
- journal article
Neurotransmitters in 3-phosphoglycerate dehydrogenase deficiency.
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- 2000
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- Case Study
N-acetylaspartylglutamate in Canavan disease: an adverse effector?
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- 1999
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- Publication type:
- journal article
Late-onset holocarboxylase synthetase-deficiency: pre- and post-natal diagnosis and evaluation of effectiveness of antenatal biotin therapy.
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- 1998
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- Publication type:
- journal article
In vivo stable isotope studies in three patients affected with mitochondrial fatty acid oxidation disorders: Limited diagnostic use of 1-C fatty acid breath test using bolus technique.
- Published in:
- European Journal of Pediatrics, 1997, v. 156, p. S78, doi. 10.1007/PL00014278
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- Publication type:
- Article
Stable isotope studies of phytanic acid α-oxidation: in vivo production of formic acid.
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- European Journal of Pediatrics, 1997, v. 156, p. S83, doi. 10.1007/PL00014279
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- Publication type:
- Article
Spatial Variability of the Snowmelt‐Albedo Feedback in Antarctica.
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- Journal of Geophysical Research. Earth Surface, 2021, v. 126, n. 2, p. 1, doi. 10.1029/2020JF005696
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- Publication type:
- Article
Clinical features and X-inactivation in females heterozygous for creatine transporter defect.
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- Clinical Genetics, 2011, v. 79, n. 3, p. 264, doi. 10.1111/j.1399-0004.2010.01460.x
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- Publication type:
- Article
Molecular genetic analysis of the cystathionine β-synthase gene in Portuguese homocystinuria patients: three novel mutations.
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- Clinical Genetics, 2001, v. 60, n. 2, p. 161, doi. 10.1034/j.1399-0004.2001.600212.x
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- Publication type:
- Article
l-2-Hydroxyglutaric aciduria: clinical, genetic, and brain MRI characteristics in two adult sisters.
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- European Journal of Neurology, 2006, v. 13, n. 5, p. 499, doi. 10.1111/j.1468-1331.2006.01282.x
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- Publication type:
- Article
5,10-Methylenetetrahydrofolate reductase 677C→T and 1298A→C mutations are genetic determinants of elevated homocysteine.
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- QJM: An International Journal of Medicine, 2003, v. 96, n. 4, p. 297, doi. 10.1093/qjmed/hcg039
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- Article
Proinflammatory cytokines inhibit the expression and function of human type I 5'-deiodinase in HepG2 hepatocarcinoma cells.
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- European Journal of Endocrinology, 2002, v. 146, n. 4, p. 559, doi. 10.1530/eje.0.1460559
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- Publication type:
- Article
Reversible reactivity by optic nerve astrocytes.
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- Glia, 2013, v. 61, n. 8, p. 1218, doi. 10.1002/glia.22507
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- Publication type:
- Article
Phenotype Distinctions in Mice Deficient in the Neuron-Specific a3 Subunit of Na,K-ATPase: Atp1a3<sup>tm1Ling/+</sup> and Atp1a3<sup>+/D801Y</sup>.
- Published in:
- eNeuro, 2024, v. 11, n. 8, p. 1, doi. 10.1523/ENEURO.0101-24.2024
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- Article
Patterns of free amino acids in German convenience food products: marked mismatch between label information and composition.
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- European Journal of Clinical Nutrition, 2010, v. 64, n. 1, p. 88, doi. 10.1038/ejcn.2009.116
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- Publication type:
- Article
[6S]5-methyltetrahydrofolate or folic acid supplementation and absorption and initial elimination of folate in young and middle-aged adults.
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- European Journal of Clinical Nutrition, 2005, v. 59, n. 12, p. 1409, doi. 10.1038/sj.ejcn.1602254
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- Publication type:
- Article
Functional retinoid and thyroid hormone receptors in human thyroid-carcinoma cell lines and tissues.
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- International Journal of Cancer, 1998, v. 76, n. 3, p. 368, doi. 10.1002/(SICI)1097-0215(19980504)76:3<368::AID-IJC14>3.0.CO;2-7
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- Article
Reliability of biochemical parameters used in prenatal diagnosis of combined methylmalonic aciduria and homocystinuria.
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- 1998
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- Publication type:
- journal article
AMNIOTIC FLUID ODD-CHAIN FATTY ACIDS ARE INCREASED IN PROPIONIC ACIDAEMIA.
- Published in:
- Prenatal Diagnosis, 1996, v. 16, n. 10, p. 941, doi. 10.1002/(SICI)1097-0223(199610)16:10<941::AID-PD965>3.0.CO;2-T
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- Publication type:
- Article
A CASE OF TYROSINAEMIA TYPE I WITH NORMAL LEVEL OF SUCCINYLACETONE IN THE AMNIOTIC FLUID.
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- Prenatal Diagnosis, 1996, v. 16, n. 3, p. 239, doi. 10.1002/(SICI)1097-0223(199603)16:3<239::AID-PD829>3.0.CO;2-W
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- Publication type:
- Article
Prenatal diagnosis of isovaleric acidaemia by enzyme and metabolite assay in the first and second trimesters.
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- Prenatal Diagnosis, 1995, v. 15, n. 6, p. 527, doi. 10.1002/pd.1970150605
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- Publication type:
- Article
Prenatal detection of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria).
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- Prenatal Diagnosis, 1993, v. 13, n. 2, p. 150, doi. 10.1002/pd.1970130213
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- Publication type:
- Article
Prenatal diagnosis of inherited metabolic disorders by quantitation of characteristic metabolites in amniotic fluid: Facts and future.
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- Prenatal Diagnosis, 1990, v. 10, n. 4, p. 265, doi. 10.1002/pd.1970100410
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- Publication type:
- Article