Found: 18
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Status epilepticus and hyperprolinaemia following recurrent gelatine administrations in a patient on peritoneal dialysis.
- Published in:
- Nephrology Dialysis Transplantation, 2006, v. 21, n. 5, p. 1417, doi. 10.1093/ndt/gfk046
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- Publication type:
- Article
Non-invasive test using palmitate in patients with suspected fatty acid oxidation defects: disease-specific acylcarnitine patterns can help to establish the diagnosis.
- Published in:
- 2017
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- Publication type:
- journal article
Glycogen Storage Disease Type 1: Impact of Medium-Chain Triglycerides on Metabolic Control and Growth.
- Published in:
- Annals of Nutrition & Metabolism, 2010, v. 56, n. 3, p. 225, doi. 10.1159/000283242
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- Publication type:
- Article
5qSMA: standardised retrospective natural history assessment in 268 patients with four copies of SMN2.
- Published in:
- Journal of Neurology, 2024, v. 271, n. 5, p. 2787, doi. 10.1007/s00415-024-12188-5
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- Publication type:
- Article
Impact of selected inborn errors of metabolism on prenatal and neonatal development.
- Published in:
- IUBMB Life, 2010, v. 62, n. 6, p. 403, doi. 10.1002/iub.336
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- Publication type:
- Article
Energy metabolism in umbilical endothelial cells from preterm and term neonates.
- Published in:
- Journal of Perinatal Medicine, 2011, v. 39, n. 5, p. 587, doi. 10.1515/JPM.2011.063
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- Publication type:
- Article
Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples.
- Published in:
- Journal of Inherited Metabolic Disease, 2023, v. 46, n. 6, p. 1043, doi. 10.1002/jimd.12671
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- Publication type:
- Article
Pitfalls in paediatric gait disturbances: painless bone diseases.
- Published in:
- 2006
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- Publication type:
- journal article
Pitfalls in paediatric gait disturbances.
- Published in:
- European Journal of Pediatrics, 2006, v. 165, n. 12, p. 909, doi. 10.1007/s00431-006-0180-6
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- Publication type:
- Article
Enzyme replacement therapy in an adolescent with Fabry disease.
- Published in:
- European Journal of Pediatrics, 2003, v. 162, n. 7/8, p. 522, doi. 10.1007/s00431-003-1222-y
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- Publication type:
- Article
Preeclampsia and HELLP Syndrome: Impaired Mitochondrial Function in Umbilical Endothelial Cells.
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- Reproductive Sciences, 2010, v. 17, n. 3, p. 219, doi. 10.1177/1933719109351597
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- Publication type:
- Article
Inborn Errors of Energy Metabolism Associated with Myopathies.
- Published in:
- Journal of Biomedicine & Biotechnology, 2010, p. 1, doi. 10.1155/2010/340849
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- Publication type:
- Article
Cyclosporine A: impact on mitochondrial function in endothelial cells.
- Published in:
- Clinical Transplantation, 2011, v. 25, n. 4, p. 584, doi. 10.1111/j.1399-0012.2010.01301.x
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- Publication type:
- Article
Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial.
- Published in:
- JAMA Pediatrics, 2024, v. 178, n. 6, p. 540, doi. 10.1001/jamapediatrics.2024.0492
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- Publication type:
- Article
Comprehensive analysis of the l-arginine/ l-homoarginine/nitric oxide pathway in preterm neonates: potential roles for homoarginine and asymmetric dimethylarginine in foetal growth.
- Published in:
- Amino Acids, 2017, v. 49, n. 4, p. 783, doi. 10.1007/s00726-017-2382-9
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- Publication type:
- Article
Increased asymmetric dimethylarginine (ADMA) dimethylaminohydrolase (DDAH) activity in childhood hypercholesterolemia type II.
- Published in:
- Amino Acids, 2012, v. 43, n. 2, p. 805, doi. 10.1007/s00726-011-1136-3
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- Publication type:
- Article
Asymmetric dimethylarginine in children with homocystinuria or phenylketonuria.
- Published in:
- Amino Acids, 2012, v. 42, n. 5, p. 1765, doi. 10.1007/s00726-011-0892-4
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- Publication type:
- Article
Plasma and urine amino acid pattern in preterm infants on enteral nutrition: impact of gestational age.
- Published in:
- Amino Acids, 2010, v. 38, n. 3, p. 959, doi. 10.1007/s00726-009-0305-0
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- Publication type:
- Article