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Influences of Hypoxia Exercise on Whole-Body Insulin Sensitivity and Oxidative Metabolism in Older Individuals.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Patterns in early diffusion-weighted MRI in children with haemolytic uraemic syndrome and CNS involvement.
- Published in:
- European Radiology, 2012, v. 22, n. 3, p. 506, doi. 10.1007/s00330-011-2286-0
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- Publication type:
- Article
The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-98809-9
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- Publication type:
- Article
Publisher Correction: The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study.
- Published in:
- 2021
- By:
- Publication type:
- Correction Notice
The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-98809-9
- By:
- Publication type:
- Article
Migalastat Tissue Distribution: Extrapolation From Mice to Humans Using Pharmacokinetic Modeling and Comparison With Agalsidase Beta Tissue Distribution in Mice.
- Published in:
- Clinical Pharmacology in Drug Development, 2021, v. 10, n. 9, p. 1075, doi. 10.1002/cpdd.941
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- Publication type:
- 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
Pitfalls in paediatric gait disturbances: painless bone diseases.
- Published in:
- 2006
- By:
- Publication type:
- journal 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
Neonatal screening for citrullinaemia.
- Published in:
- 2003
- By:
- Publication type:
- journal article
Clinical course of 63 patients with neonatal onset urea cycle disorders in the years 2001-2013.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Glycogen storage disease type III: modified Atkins diet improves myopathy.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 196, doi. 10.1186/s13023-014-0196-3
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- Publication type:
- Article
Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedure.
- Published in:
- 2011
- By:
- Publication type:
- journal article
LMS-Based Pediatric Reference Values for Parameters of Phosphate Homeostasis in the HARP Cohort.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2024, v. 109, n. 3, p. 668, doi. 10.1210/clinem/dgad597
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- Publication type:
- Article
Different Trafficking Phenotypes of Niemann-Pick C1 Gene Mutations Correlate with Various Alterations in Lipid Storage, Membrane Composition and Miglustat Amenability.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 6, p. 2101, doi. 10.3390/ijms21062101
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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
Impact of Short-Term Hypoxia on Sirtuins as Regulatory Elements in HUVECs.
- Published in:
- Journal of Clinical Medicine, 2020, v. 9, n. 8, p. 2604, doi. 10.3390/jcm9082604
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- Publication type:
- Article
Analysis of Sirtuin 1 and Sirtuin 3 at Enzyme and Protein Levels in Human Breast Milk during the Neonatal Period.
- Published in:
- Metabolites (2218-1989), 2021, v. 11, n. 6, p. 348, doi. 10.3390/metabo11060348
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- Publication type:
- Article
Developmental changes in the L-arginine/nitric oxide pathway from infancy to adulthood: plasma asymmetric dimethylarginine levels decrease with age.
- Published in:
- Clinical Chemistry & Laboratory Medicine, 2007, v. 45, n. 11, p. 1525, doi. 10.1515/CCLM.2007.300
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- Publication type:
- Article
Causes and Early Diagnosis of Vitamin B12 Deficiency: Risk Group includes infants.
- Published in:
- Deutsches Ärzteblatt International, 2009, v. 106, n. 17, p. 7
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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
Treatment of arginase deficiency revisited: guanidinoacetate as a therapeutic target and biomarker for therapeutic monitoring.
- Published in:
- Developmental Medicine & Child Neurology, 2014, v. 56, n. 10, p. 1021, doi. 10.1111/dmcn.12488
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- Publication type:
- Article
Developmental outcome in five children with Hurler syndrome after stem cell transplantation: a pilot study.
- Published in:
- Developmental Medicine & Child Neurology, 2007, v. 49, n. 9, p. 693, doi. 10.1111/j.1469-8749.2007.00693.x
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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
Living with Glutaric Aciduria Type 1: Experiences of Adolescents and Their Families Living in Germany.
- Published in:
- Gazi Medical Journal, 2021, v. 32, n. 1, p. 69, doi. 10.12996/gmj.2021.13
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- Publication type:
- Article
Cross-sectional analysis: clinical presentation of children with persistently low ALP levels.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2021, v. 34, n. 12, p. 1559, doi. 10.1515/jpem-2021-0330
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- Publication type:
- Article
Case study on the pathophysiology of Fabry disease: abnormalities of cellular membranes can be reversed by substrate reduction in vitro.
- Published in:
- Bioscience Reports, 2017, v. 37, n. 2, p. 1, doi. 10.1042/BSR20160402
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- Publication type:
- Article
Early kidney transplantation improves neurocognitive outcome in patients with severe congenital chronic kidney disease.
- Published in:
- Transplant International, 2015, v. 28, n. 4, p. 429, doi. 10.1111/tri.12510
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- Publication type:
- Article
Possible role of SIRT1 and SIRT3 in post-translational modifications in human breast milk during the neonatal period.
- Published in:
- Amino Acids, 2022, v. 54, n. 12, p. 1611, doi. 10.1007/s00726-022-03197-7
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- Publication type:
- Article
Development and validation of GC-MS methods for the comprehensive analysis of amino acids in plasma and urine and applications to the HELLP syndrome and pediatric kidney transplantation: evidence of altered methylation, transamidination, and arginase activity
- Published in:
- Amino Acids, 2019, v. 51, n. 3, p. 529, doi. 10.1007/s00726-018-02688-w
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- Publication type:
- Article
Predictors of growth patterns in children with mucopolysaccharidosis I after haematopoietic stem cell transplantation.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 4, p. 371, doi. 10.1002/jmd2.12291
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- Publication type:
- Article
Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidence.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2020, v. 52, n. 1, p. 3, doi. 10.1002/jmd2.12092
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- Publication type:
- Article
HELLP Syndrome: Altered Hypoxic Response of the Fatty Acid Oxidation Regulator SIRT 4.
- Published in:
- Reproductive Sciences, 2017, v. 24, n. 4, p. 568, doi. 10.1177/1933719116667216
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- Publication type:
- Article
Preeclampsia and HELLP Syndrome: Impaired Mitochondrial Function in Umbilical Endothelial Cells.
- Published in:
- Reproductive Sciences, 2010, v. 17, n. 3, p. 219, doi. 10.1177/1933719109351597
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- Publication type:
- Article
Lipid raft abnormalities and subsequent protein trafficking effects in Niemann‐Pick type C1 (LB158).
- Published in:
- FASEB Journal, 2014, v. 28, p. N.PAG, doi. 10.1096/fasebj.28.1_supplement.lb158
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- Publication type:
- Article
Hydrolytic biotransformation of the bumetanide ester prodrug DIMAEB to bumetanide by esterases in neonatal human and rat serum and neonatal rat brain—A new treatment strategy for neonatal seizures?
- Published in:
- Epilepsia (Series 4), 2021, v. 62, n. 1, p. 269, doi. 10.1111/epi.16746
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- Publication type:
- Article
A Case Series on Genotype and Outcome of Liver Transplantation in Children with Niemann-Pick Disease Type C.
- Published in:
- 2021
- By:
- Publication type:
- Case Study
Changes in Plasma Amino Acids During Extracorporeal Liver Support by Fractionated Plasma Separation and Adsorption.
- Published in:
- 2010
- By:
- Publication type:
- Other
Expert guidance on the multidisciplinary management of cystinosis in adolescent and adult patients.
- Published in:
- Clinical Kidney Journal, 2022, v. 15, n. 9, p. 1675, doi. 10.1093/ckj/sfac099
- By:
- Publication type:
- 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
From common to rare: repurposing of bempedoic acid for the treatment of glycogen storage disease type 1.
- Published in:
- 2023
- By:
- Publication type:
- Letter
Newborn screening: A disease-changing intervention for glutaric aciduria type 1.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Treatment of Fabry's Disease With Migalastat: Outcome From a Prospective Observational Multicenter Study (FAMOUS).
- Published in:
- Clinical Pharmacology & Therapeutics, 2020, v. 108, n. 2, p. 326, doi. 10.1002/cpt.1832
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- Publication type:
- Article
A SUMO4 initiator codon variant in amyotrophic lateral sclerosis reduces SUMO4 expression and alters stress granule dynamics.
- Published in:
- Journal of Neurology, 2022, v. 269, n. 9, p. 4863, doi. 10.1007/s00415-022-11126-7
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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
Impact of pregnancy planning and preconceptual dietary training on metabolic control and offspring's outcome in phenylketonuria.
- Published in:
- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 6, p. 1070, doi. 10.1002/jimd.12544
- By:
- Publication type:
- Article
Impact of interventional and non‐interventional variables on anthropometric long‐term development in glutaric aciduria type 1: A national prospective multi‐centre study.
- Published in:
- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 3, p. 629, doi. 10.1002/jimd.12335
- By:
- Publication type:
- Article