Found: 16
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Excellent long-term outcome of renal transplantation in cystinosis patients.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0307-9
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- Publication type:
- Article
Excellent long-term outcome of renal transplantation in cystinosis patients.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 90, doi. 10.1186/s13023-015-0307-9
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- Publication type:
- Article
Leucine-sensitive hyperinsulinaemic hypoglycaemia in patients with loss of function mutations in 3-Hydroxyacyl-CoA Dehydrogenase.
- Published in:
- Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 25, doi. 10.1186/1750-1172-7-25
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- Publication type:
- Article
Population pharmacokinetics and pharmacodynamics of cysteamine in nephropathic cystinosis patients.
- Published in:
- 2011
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- Publication type:
- journal article
Ubiquinone concentration in control chorionic villi and fetal liver.
- Published in:
- Prenatal Diagnosis, 1991, v. 11, n. 3, p. 206, doi. 10.1002/pd.1970110312
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- Publication type:
- Article
Dilated Cardiomyopathy and Premature Ovarian Failure Unveiling Propionic Aciduria.
- Published in:
- Clinical Chemistry, 2018, v. 64, n. 4, p. 752, doi. 10.1373/clinchem.2017.281246
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- Publication type:
- Article
Pyruvate carboxylase deficiency: Metabolic characteristics and new neurological aspects.
- Published in:
- Annals of Neurology, 2006, v. 59, n. 1, p. 121, doi. 10.1002/ana.20709
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- Publication type:
- Article
Long-term metabolic follow-up and clinical outcome of 35 patients with maple syrup urine disease.
- Published in:
- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 6, p. 783, doi. 10.1007/s10545-017-0083-x
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- Publication type:
- Article
Sustained reduction of hyperhomocysteinaemia with folic acid supplementation in predialysis patients.
- Published in:
- Nephrology Dialysis Transplantation, 1999, v. 14, n. 12, p. 2903, doi. 10.1093/ndt/14.12.2903
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- Publication type:
- Article
Prenatal diagnosis of carnitine palmitoyltransferase 2 deficiency in chorionic villi: a novel approach.
- Published in:
- Prenatal Diagnosis, 2003, v. 23, n. 11, p. 884, doi. 10.1002/pd.713
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- Publication type:
- Article
Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency.
- Published in:
- Human Mutation, 2009, v. 30, n. 5, p. 734, doi. 10.1002/humu.20908
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- Publication type:
- Article
A new mouse model for the trisomy of the Abcg1–U2af1 region reveals the complexity of the combinatorial genetic code of down syndrome.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 24, p. 4756, doi. 10.1093/hmg/ddp438
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- Publication type:
- Article
Two novel mutations (K384E and L539S) in the C-terminal moiety of the cystathionine β-synthase protein in two French pyridoxine-responsive homocystinuria patients.
- Published in:
- Human Mutation, 1997, v. 9, n. 1, p. 81, doi. 10.1002/(SICI)1098-1004(1997)9:1<81::AID-HUMU18>3.0.CO;2-L
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- Publication type:
- Article
Effective correction of hyperhomocysteinemia in hemodialysis patients by intravenous folinic acid and pyridoxine therapy.
- Published in:
- 1999
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- Publication type:
- journal article
Homocyst(e)ine, oxidative stress, and endothelium function in uremic patients.
- Published in:
- Kidney International Supplement, 2001, n. 78, p. S-243
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- Publication type:
- Article
Hyperhomocysteinemia, a risk factor for atherosclerosis in chronic uremic patients.
- Published in:
- Kidney International Supplement, 1993, n. 41, p. S-72, doi. 10.1111/1523-1755.ep17702003
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- Publication type:
- Article