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The New England Journal of Medicine, ISSN 0028-4793, 09/2019, Volume 381, Issue 12, pp. 1185 - 1185
To the Editor: The report by van Kuilenburg et al. (April 11 issue) 1 described the consequences of reduced glutaminase activity resulting from intronic... 
MEDICINE, GENERAL & INTERNAL
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 08/2019, Volume 127, Issue 4, pp. 368 - 372
NGLY1-CDDG is a congenital disorder of deglycosylation caused by a defective peptide: -glycanase (PNG). To date, all but one of the reported patients have been... 
NGLY1-CDDG | Biomarker | Aspartylglycosamine | Peptide:N-glycanase | MEDICINE, RESEARCH & EXPERIMENTAL | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | DEGRADATION | Genetic disorders | Peptides | Mass spectrometry | Genomics
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 10/2019
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 09/2019, Volume 42, Issue 5, pp. 730 - 744
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 09/2019, Volume 42, Issue 5, pp. 745 - 761
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 06/2013, Volume 109, Issue 2, pp. 121 - 124
Patients with phenylketonuria (PKU) have a poor LC-PUFA status and require supplementation. The objective of this study was to evaluate the LC-PUFA status of... 
Journal Article
Journal of clinical investigation, ISSN 0021-9738, 2017, Volume 127, Issue 3, pp. 1005 - 1018
Journal Article
BBA - General Subjects, ISSN 0304-4165, 06/2019, Volume 1863, Issue 6, pp. 1088 - 1097
Pyridoxal 5′-phosphate (PLP) is the active form of vitamin B6. Mammals cannot synthesize vitamin B6, so they rely on dietary uptake of the different B6 forms,... 
Vitamin B6 salvage pathway | Pyridoxal reductase | Vitamin B6 vitamers | KCNAB2 | AKR1B1 and AKR1B10 | Journal Article | PROFILES | MECHANISM | BIOCHEMISTRY & MOLECULAR BIOLOGY | CEREBROSPINAL-FLUID | FAMILY | BIOPHYSICS | MOLECULAR-CLONING | BETA-SUBUNIT | EXPRESSION | MODULATION | Phosphates | Physiological aspects | Enzymes | Phosphatases | Vitamins | Cells
Journal Article
PLoS ONE, ISSN 1932-6203, 03/2015, Volume 10, Issue 3, p. e0120972
Background Over the past years, the essential role of vitamin B6 in brain development and functioning has been recognized and genetic metabolic disorders... 
Agricultural and Biological Sciences(all) | Medicine(all) | Biochemistry, Genetics and Molecular Biology(all) | Journal Article | DIAGNOSIS | SEIZURES | METABOLISM | 5'-PHOSPHATE | MULTIDISCIPLINARY SCIENCES | PYRIDOXINE-DEPENDENT EPILEPSY | NONSPECIFIC ALKALINE-PHOSPHATASE | ANTIQUITIN | PNPO DEFICIENCY | MUTATIONS | ANTIEPILEPTIC DRUGS | Pyridoxal - cerebrospinal fluid | Cross-Sectional Studies | Humans | Anticonvulsants - therapeutic use | Child, Preschool | Infant | Male | Vitamin B 6 - cerebrospinal fluid | Vitamin B 6 - blood | Intellectual Disability - metabolism | Intellectual Disability - drug therapy | Pyridoxic Acid - cerebrospinal fluid | Tandem Mass Spectrometry | Pyridoxamine - cerebrospinal fluid | Pyridoxic Acid - blood | Pyridoxal Phosphate - blood | Adolescent | Chromatography, Liquid | Female | Child | Pyridoxal Phosphate - cerebrospinal fluid | Pyridoxal - blood | Physiological aspects | Research | Cerebrospinal fluid | Vitamin B6 | Blood plasma | Phosphates | Drugs | Brain | Substance abuse treatment | Dehydrogenases | Intellectual disabilities | Epilepsy | Disorders | Phosphatase | Ethics | Metabolites | Genetics | Children | Drug dosages | Nutrient deficiency | Fluid | Mass spectroscopy | Liquid chromatography | Metabolism | Chromatography | Acids | Scientific imaging | Homocysteine | Mass spectrometry | Metabolic disorders
Journal Article
PLoS ONE, ISSN 1932-6203, 01/2013, Volume 8, Issue 1, p. e52178
Purpose: The increasing incidence of small renal tumors in an aging population with comorbidities has stimulated the development of minimally invasive... 
SURVIVAL | POLY(L-LACTIC ACID) MICROSPHERES | RADIONUCLIDE THERAPY | PINHOLE SPECT | HEPAR TRIAL | LIVER MALIGNANCIES | KIDNEY | TUMORS | CELL CARCINOMA | RADIOFREQUENCY ABLATION | PINHOLE | MULTIDISCIPLINARY SCIENCES | RADIOEMBOLIZATION | SPECT | Holmium - therapeutic use | Male | Tomography, X-Ray Computed | Antineoplastic Agents - therapeutic use | Positron-Emission Tomography | Antineoplastic Agents - administration & dosage | Feasibility Studies | Hydroxybutyrates - administration & dosage | Kidney Neoplasms - diagnosis | Microspheres | Multimodal Imaging | Organometallic Compounds - therapeutic use | Tumor Cells, Cultured | Holmium - administration & dosage | Radioisotopes - therapeutic use | Pentanones - administration & dosage | Kidney Neoplasms - radiotherapy | Radiopharmaceuticals - administration & dosage | Magnetic Resonance Imaging | Animals | Kidney Neoplasms - diagnostic imaging | Radioisotopes - administration & dosage | Mice | Mice, Inbred BALB C | Organometallic Compounds - administration & dosage | Gamma rays | CT imaging | SPECT imaging | Comorbidity | Cancer | Medical imaging equipment | Nuclear medicine | Laboratories | Syngeneic grafts | Parenchyma | Metastasis | Experiments | Cancer therapies | Urology | Anticancer properties | Computed tomography | Beta rays | Holmium | Surgery | Aging | Drug dosages | Kidneys | Invasiveness | Organs | Feasibility studies | Paramagnetism | Mass spectroscopy | Patients | Single photon emission computed tomography | Inductively coupled plasma | Hospitals | Magnetic resonance imaging | Pharmacy | Kidney cancer | Beta particles | Antitumor activity | Mass spectrometry | Tumors | Kidney transplantation
Journal Article
Journal Article