Found: 30
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Short-term response to dietary therapy in molybdenum cofactor deficiency.
- Published in:
- 1993
- By:
- Publication type:
- journal article
Sterol and lipid analyses identifies hypolipidemia and apolipoprotein disorders in autism associated with adaptive functioning deficits.
- Published in:
- Translational Psychiatry, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41398-021-01580-8
- By:
- Publication type:
- Article
Fumaric aciduria: A rare cause of refractory epilepsy.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
Child with D-2-Hydroxyglutaric Aciduria Type II: A Rare Neurometabolic Disorder.
- Published in:
- 2021
- By:
- Publication type:
- Case Study
Attenuated form of Glycine Encephalopathy: An Unusual Cause of Neurodevelopmental Disorder.
- Published in:
- 2021
- By:
- Publication type:
- Letter to the Editor
Metabolic Or Ischemic Stroke in Succinic Semi-Aldehyde Dehydrogenase Deficiency Due to the Homozygous Variant c. 1343 + 1_1343 + 3delGTAinsTT in ALDH5A1.
- Published in:
- 2021
- By:
- Publication type:
- Letter to the Editor
Guanidinoacetate methyltransferase (GAMT) deficiency, a cerebral creatine deficiency syndrome: A rare treatable metabolic disorder.
- Published in:
- 2020
- By:
- Publication type:
- Case Study
Metabolic Stroke: A Novel Presentation in a Child with Succinic Semialdehyde Dehydrogenase Deficiency.
- Published in:
- Annals of Indian Academy of Neurology, 2020, v. 23, n. 1, p. 113, doi. 10.4103/aian.AIAN_213_18
- By:
- Publication type:
- Article
Identifying Smith-Lemli-Opitz syndrome in conjunction with prenatal screening for Down syndrome.
- Published in:
- Prenatal Diagnosis, 2006, v. 26, n. 9, p. 842, doi. 10.1002/pd.1518
- By:
- Publication type:
- Article
Dehydro-oestriol and dehydropregnanetriol are candidate analytes for prenatal diagnosis of Smith-Lemli-Opitz syndrome.
- Published in:
- 2001
- By:
- Publication type:
- journal article
Severe phenotype of X-linked dominant chondrodysplasia punctata.
- Published in:
- Clinical Case Reports, 2017, v. 5, n. 9, p. 1435, doi. 10.1002/ccr3.1008
- By:
- Publication type:
- Article
Equine Type Estrogens Produced by a Pregnant Woman Carrying a Smith-Lemli-Opitz Syndrome Fetus.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 1999, v. 84, n. 3, p. 1157, doi. 10.1210/jcem.84.3.5660
- By:
- Publication type:
- Article
ATRX loss promotes immunosuppressive mechanisms in IDH1 mutant glioma.
- Published in:
- Neuro-Oncology, 2022, v. 24, n. 6, p. 888, doi. 10.1093/neuonc/noab292
- By:
- Publication type:
- Article
Disruption of the HIF-1 pathway in individuals with Ollier disease and Maffucci syndrome.
- Published in:
- PLoS Genetics, 2022, v. 18, n. 12, p. 1, doi. 10.1371/journal.pgen.1010504
- By:
- Publication type:
- Article
Development and characterization of a hypomorphic Smith–Lemli–Opitz syndrome mouse model and efficacy of simvastatin therapy.
- Published in:
- Human Molecular Genetics, 2006, v. 15, n. 6, p. 839, doi. 10.1093/hmg/ddl003
- By:
- Publication type:
- Article
A Liver-Specific Defect of Acyl-CoA Degradation Produces Hyperammonemia, Hypoglycemia and a Distinct Hepatic Acyl-CoA Pattern.
- Published in:
- PLoS ONE, 2013, v. 8, n. 7, p. 1, doi. 10.1371/journal.pone.0060581
- By:
- Publication type:
- Article
Mutations in the gene encoding 3β-hydroxysteroid-Δ<sup>8</sup>,Δ<sup>7</sup>-isomerase cause X-linked dominant Conradi-Hünermann syndrome.
- Published in:
- Nature Genetics, 1999, v. 22, n. 3, p. 291, doi. 10.1038/10357
- By:
- Publication type:
- Article
Cholesterol Metabolism Is Required for Intracellular Hedgehog Signal Transduction In Vivo.
- Published in:
- PLoS Genetics, 2011, v. 7, n. 9, p. 1, doi. 10.1371/journal.pgen.1002224
- By:
- Publication type:
- Article
The remarkable journey of one female individual with ornithine transcarbamylase deficiency diagnosed post‐mortem.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency.
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. 13, p. 1631, doi. 10.1093/hmg/ddg172
- By:
- Publication type:
- Article
Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith–Lemli–Opitz syndrome.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 6, p. 555, doi. 10.1093/hmg/10.6.555
- By:
- Publication type:
- Article
Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith-Lemli-Opitz syndrome.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 6, p. 555, doi. 10.1093/hmg/10.6.555
- By:
- Publication type:
- Article
Cloning of glutaryl-CoA dehydrogenase cDNA, and expression of wild type and mutant enzymes in Escherichia coli.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 9, p. 1493
- By:
- Publication type:
- Article
Adult presentation of X-linked Conradi-Hünermann-Happle syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1309, doi. 10.1002/ajmg.a.36899
- By:
- Publication type:
- Article
Desmosterolosis-phenotypic and molecular characterization of a third case and review of the literature.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 7, p. 1597, doi. 10.1002/ajmg.a.34040
- By:
- Publication type:
- Article
Clinical Variability in Rett Syndrome.
- Published in:
- Journal of Child Neurology, 2003, v. 18, n. 10, p. 662, doi. 10.1177/08830738030180100801
- By:
- Publication type:
- Article
Desmosterolosis: an illustration of diagnostic ambiguity of cholesterol synthesis disorders.
- Published in:
- 2014
- By:
- Publication type:
- Letter to the Editor
Desmosterolosis: an illustration of diagnostic ambiguity of cholesterol synthesis disorders.
- Published in:
- 2014
- By:
- Publication type:
- case study
Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay.
- Published in:
- 2011
- By:
- Publication type:
- journal article
Clinical observations, molecular genetic analysis, and treatment of sitosterolemia in infants and children.
- Published in:
- Journal of Inherited Metabolic Disease, 2010, v. 33, n. 4, p. 437, doi. 10.1007/s10545-010-9126-2
- By:
- Publication type:
- Article