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Journal Article
Clinical Chemistry, ISSN 0009-9147, 04/2019, Volume 65, Issue 4, pp. 595 - 597
Follow-up plasma acylcarnitine analysis by tandem mass spectrometry confirmed the increased C5 (10.98 ^mol/L; reference interval, <0.30 ^mol/L). [...]to... 
MEDICAL LABORATORY TECHNOLOGY | Coma | Neonates | Dehydrogenases | Laboratories | Dehydration | Metabolites | Vomiting | Children | Metabolic acidosis | Age | Seizures | Urine | Creatinine | Spectroscopy | Enzymes | Phenotypes | Hyperammonemia | Mass spectroscopy | Liquid chromatography | Metabolism | Medical screening | Patients | Acids | Lethargy | Scientific imaging | Mutation | Acidosis | Mass spectrometry
Journal Article
Kidney International, ISSN 0085-2538, 05/2019, Volume 95, Issue 5, pp. 1012 - 1014
Calcimimetics are widely used in patients on dialysis to treat secondary hyperparathyroidism. Our current view is that bone effects are only indirect through... 
DIALYSIS PATIENTS | CINACALCET | UROLOGY & NEPHROLOGY
Journal Article
Nephrology Dialysis Transplantation, ISSN 0931-0509, 01/2016, Volume 31, Issue 1, pp. 23 - 30
Journal Article
Scientific Reports, ISSN 2045-2322, 12/2018, Volume 8, Issue 1, pp. 5655 - 9
HD tissue hypoxia associates with organ dysfunctions. OER, the ratio between SaO(2) and central-venous-oxygen-saturation, could estimate oxygen requirements... 
SURGERY | MULTIDISCIPLINARY SCIENCES | CENTRAL VENOUS SATURATION | SEPTIC SHOCK | MICROCIRCULATION | HYPOXEMIA | DYSFUNCTION | EXERCISE | SEVERE SEPSIS | Oxygen | Ultrafiltration | Hemodialysis | Mortality | Biomarkers | Hypoxia | Multivariate analysis | Patients | Morbidity | Catheters
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 3/2018, Volume 41, Issue 2, pp. 197 - 208
Impaired activity of galactose-1-phosphate uridyltransferase (GALT) causes galactosemia, an autosomal recessive disorder of galactose metabolism. Early... 
Human Genetics | Biochemistry, general | Pediatrics | Internal Medicine | Medicine & Public Health | Metabolic Diseases | LONG-TERM PROGNOSIS | MEDICINE, RESEARCH & EXPERIMENTAL | MANAGEMENT | PRENATAL EXPOSURE | RESTRICTION | CHILDREN | URIDYL TRANSFERASE GALT | GENE | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | PHOSPHATE URIDYLYLTRANSFERASE GALT | OVARIAN-FUNCTION | VERBAL DYSPRAXIA | Predictive Value of Tests | Up-Regulation | UTP-Hexose-1-Phosphate Uridylyltransferase - genetics | Age Factors | Humans | Child, Preschool | Infant | Male | Adolescent Development | Galactosephosphates - blood | Young Adult | Adult | Female | Child Development | Nutritional Status | Child | Galactosemias - diet therapy | Galactosemias - diagnosis | Child Nutritional Physiological Phenomena | Treatment Outcome | Biomarkers - blood | Disease Progression | Galactosemias - blood | UTP-Hexose-1-Phosphate Uridylyltransferase - deficiency | Adolescent | Erythrocytes - metabolism | Galactosemias - complications | Phosphates | Medical research | Liver diseases | Patient outcomes | Liver | Resveratrol | Physiological aspects | Medicine, Experimental | Development and progression | Learning disabilities | Jaundice | Neonates | Etiology | Blood cells | Erythrocytes | Speech | Galactose | Genotypes | Clinical outcomes | Galactosemia | Hereditary diseases
Journal Article
Human Mutation, ISSN 1059-7794, 12/2017, Volume 38, Issue 12, pp. 1684 - 1699
Journal Article
PLoS ONE, ISSN 1932-6203, 05/2017, Volume 12, Issue 5, p. e0178637
Journal Article
Nephrology Dialysis Transplantation, ISSN 0931-0509, 06/2019, Volume 34, Issue Supplement_1
Journal Article
Nephrology Dialysis Transplantation, ISSN 0931-0509, 06/2019, Volume 34, Issue Supplement_1
Journal Article
Nephrology Dialysis Transplantation, ISSN 0931-0509, 06/2019, Volume 34, Issue Supplement_1
Journal Article
American Journal of Clinical Pathology, ISSN 0002-9173, 09/2019, Volume 152, Issue Supplement_1, pp. S28 - S28
Abstract Background and Objectives We developed a gas chromatography–mass spectrometry (GC-MS) method for the analysis of organic acids (OAs) in plasma using... 
Journal Article
Genetics in medicine : official journal of the American College of Medical Genetics, ISSN 1098-3600, 04/2019, Volume 21, Issue 11, pp. 2552 - 2560
Abnormalities in cerebrospinal fluid (CSF) have been reported in Hurler syndrome, a fatal neurodegenerative lysosomal disorder. While no biomarker has... 
mucopolysaccharidosis | enzyme replacement therapy | biomarkers | neurocognitive decline | intrathecal therapy
Journal Article
Journal Article