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The American Journal of Human Genetics, ISSN 0002-9297, 08/2011, Volume 89, Issue 2, pp. 241 - 252
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 09/2016, Volume 119, Issue 1-2, pp. 160 - 167
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 10/2013, Volume 21, Issue 10, pp. 1067 - 1073
Renal hypouricemia (RHUC) is a heterogeneous inherited disorder characterized by impaired tubular uric acid (UA) transport with severe complications, such as... 
SLC22A12 | uric acid transporters | URAT1 | renal hypouricemia | SLC2A9 | TRANSPORTER GENE | GOUT | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | RISK | IDENTIFICATION | EXCRETION | ASSOCIATION | SERUM URIC-ACID | MOLECULAR ANALYSIS | Xenopus | Urinary Calculi - ethnology | Humans | Endoplasmic Reticulum - metabolism | Male | Acute Kidney Injury - genetics | Renal Tubular Transport, Inborn Errors - genetics | Neuronal Ceroid-Lipofuscinoses - etiology | Organic Anion Transporters - metabolism | Uric Acid - urine | Organic Anion Transporters - genetics | Absorption | Neuronal Ceroid-Lipofuscinoses - genetics | Membrane Transport Proteins - genetics | Adult | Female | Renal Tubular Transport, Inborn Errors - diagnosis | Neuronal Ceroid-Lipofuscinoses - diagnosis | Child | Urinary Calculi - genetics | Acute Kidney Injury - etiology | Roma - genetics | Urinary Calculi - complications | Urinary Calculi - diagnosis | Organic Cation Transport Proteins - metabolism | Gene Frequency | Renal Tubular Transport, Inborn Errors - complications | Czech Republic | Animals | Pedigree | Acute Kidney Injury - diagnosis | Alleles | Heterozygote | Mutation | Organic Cation Transport Proteins - genetics | Renal Tubular Transport, Inborn Errors - ethnology | Urine | Phenotypes | Excretion | Kidneys | Disease | Uric acid | Patients | Medicine | Proteins | Hospitals | Clonal deletion | Protein folding | Rheumatism | Genetics | Neuronal ceroid lipofuscinosis | Endoplasmic reticulum | Metabolic disorders | Genotypes | Index Medicus
Journal Article
Basal Ganglia, ISSN 2210-5336, 08/2016, Volume 6, Issue 3, pp. 121 - 122
We present a case report of a patient with adult-onset Niemann–Pick disease type C (NPC), emphasizing an interdisciplinary approach to diagnosis and treatment.... 
Adult onset | Disease modifying therapy | Miglustat | Niemann–Pick type C | Niemann-Pick type C
Journal Article
Psychologie pro praxi, ISSN 1803-8670, 2014, Issue 3-4, pp. 143 - 151
The text pays attention to psychological assessment of executive functions in rare inherited metabolic disorders as a part of a complex assessment process.... 
Psychology
Journal Article
Ceska a Slovenska Neurologie a Neurochirurgie, ISSN 1210-7859, 2012, Volume 75, Issue 3, pp. 303 - 308
Journal Article
CLINICAL AND EXPERIMENTAL IMMUNOLOGY, ISSN 0009-9104, 04/2017, Volume 188, Issue 1, pp. 45 - 52
This cross-sectional study was designed to investigate the extent of genetic susceptibility by targeting variants in interleukin (IL)-4/IL-13 signalling... 
molecular biology | GAMMA | POPULATION | allergy | IL-13 | IMMUNOLOGY | CHILDREN | RESPONSES | INFLAMMATION | MUTATION | cytokines | ASSOCIATION | T-CELLS | ATOPIC ASTHMA | Interleukins | Analysis | Genes | Immunoglobulin E | Genetic research | Disease susceptibility | Genetic aspects | Interferon | Biological response modifiers | Gene expression | Genetic polymorphisms
Journal Article
Journal of Applied Toxicology, ISSN 0260-437X, 11/2014, Volume 34, Issue 11, pp. 1220 - 1225
Journal Article
Nanotoxicology, ISSN 1743-5390, 5/2015, Volume 9, Issue S1, pp. 33 - 43
Journal Article
Toxicology Letters, ISSN 0378-4274, 2008, Volume 180, pp. S213 - S213
Journal Article
Toxicology Letters, ISSN 0378-4274, 2008, Volume 180, pp. S218 - S219
Journal Article
Toxicology Letters, ISSN 0378-4274, 2008, Volume 180, pp. S214 - S215
Journal Article
Journal Article
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