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Pediatric Nephrology, ISSN 0931-041X, 10/2013, Volume 28, Issue 10, pp. 1923 - 1942
Adenine phosphoribosyltransferase (APRT) deficiency, cystinuria, Dent disease, familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC), and... 
Pediatrics | Nephrocalcinosis | Dent disease | Hereditary disorders | Crystalline nephropathy | Nephrolithiasis | Cystinuria | Familial hypomagnesemia with hypercalciuria and nephrocalcinosis | Kidney failure | Medicine & Public Health | Adenine phosphoribosyltransferase deficiency | Primary hyperoxaluria | 2,8-dihydroxyadeninuria | GENOTYPE-PHENOTYPE CORRELATION | I PRIMARY HYPEROXALURIA | HUMAN APRT GENE | KNOCKOUT MOUSE MODEL | FAMILIAL HYPOMAGNESEMIA | PRIMARY HYPEROXALURIA TYPE-1 | URINARY OXALATE EXCRETION | RENAL CHLORIDE CHANNEL | UROLOGY & NEPHROLOGY | PEDIATRICS | DENTS-DISEASE | Hypercalciuria - epidemiology | Humans | Dent Disease - therapy | Renal Insufficiency, Chronic - epidemiology | Renal Insufficiency, Chronic - therapy | Dent Disease - genetics | Renal Insufficiency, Chronic - genetics | Renal Insufficiency, Chronic - diagnosis | Dent Disease - epidemiology | Child | Cystinuria - diagnosis | Genetic Predisposition to Disease | Adenine Phosphoribosyltransferase - genetics | Risk Factors | Heredity | Nephrocalcinosis - therapy | Hyperoxaluria, Primary - epidemiology | Hyperoxaluria, Primary - genetics | Metabolism, Inborn Errors - diagnosis | Phenotype | Kidney Calculi - therapy | Nephrocalcinosis - genetics | Cystinuria - epidemiology | Nephrocalcinosis - diagnosis | Kidney Calculi - genetics | Urolithiasis - genetics | Cystinuria - therapy | Prognosis | Hyperoxaluria, Primary - diagnosis | Nephrocalcinosis - epidemiology | Metabolism, Inborn Errors - epidemiology | Metabolism, Inborn Errors - therapy | Renal Tubular Transport, Inborn Errors - genetics | Hyperoxaluria, Primary - therapy | Dent Disease - diagnosis | Renal Tubular Transport, Inborn Errors - epidemiology | Adenine Phosphoribosyltransferase - deficiency | Hypercalciuria - genetics | Renal Tubular Transport, Inborn Errors - diagnosis | Hypercalciuria - therapy | Hypercalciuria - diagnosis | Renal Tubular Transport, Inborn Errors - therapy | Metabolism, Inborn Errors - genetics | Cystinuria - genetics | Urolithiasis - therapy | Kidney Calculi - diagnosis | Animals | Urolithiasis - epidemiology | Kidney Calculi - epidemiology | Urolithiasis - diagnosis | Causes of | Genetic aspects | Research | Chronic kidney failure | Kidney stones | nephrocalcinosis | kidney failure | hereditary disorders | adenine phosphoribosyltransferase deficiency | cystinuria | primary hyperoxaluria | crystalline nephropathy | familial hypomagnesemia with hypercalciuria and nephrocalcinosis
Journal Article
Metabolic Brain Disease, ISSN 0885-7490, 8/2018, Volume 33, Issue 4, pp. 1375 - 1379
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 11/2012, Volume 107, Issue 3, pp. 614 - 616
Journal Article
PLoS ONE, ISSN 1932-6203, 02/2014, Volume 9, Issue 2, p. e89160
Journal Article
PLoS ONE, ISSN 1932-6203, 12/2012, Volume 7, Issue 12, p. e52425
Deletion of the first exon of calmodulin-lysine N-methyltransferase (CaM KMT, previously C2orf34) has been reported in two multigene deletion syndromes, but... 
METHYLATION | COMPLEX | MULTIDISCIPLINARY SCIENCES | PURIFICATION | MOLECULAR CHAPERONE | MITOCHONDRIAL DISEASE | KINASE ACTIVATION | BINDING | CANCER | CLIENT | DELETION | Muscle Hypotonia - enzymology | Transcription, Genetic - drug effects | Humans | Methyltransferases - metabolism | Methyltransferases - genetics | Molecular Sequence Data | Protein Transport - drug effects | Recombinant Fusion Proteins - metabolism | Intellectual Disability - genetics | Proteolysis - drug effects | Chromosomes, Human, Pair 21 - enzymology | Base Sequence | Protein Binding - drug effects | HSP90 Heat-Shock Proteins - chemistry | Intellectual Disability - enzymology | Craniofacial Abnormalities - genetics | Chromosome Deletion | Mitochondrial Diseases - genetics | Protein Structure, Tertiary | Amino Acid Sequence | Cell Line | Green Fluorescent Proteins - metabolism | Methyltransferases - chemistry | Calmodulin - metabolism | Muscle Hypotonia - genetics | Subcellular Fractions - drug effects | Chromosomes, Human, Pair 21 - genetics | Lactams, Macrocyclic - pharmacology | Cystinuria - enzymology | Mice, Inbred ICR | Cystinuria - genetics | Benzoquinones - pharmacology | Mitochondrial Diseases - enzymology | Animals | Methylation - drug effects | Craniofacial Abnormalities - enzymology | Protein Stability - drug effects | HSP90 Heat-Shock Proteins - metabolism | Mice | Subcellular Fractions - enzymology | Heat shock proteins | Comparative analysis | Methylation | Transferases | Cells | Calmodulin | Health sciences | Hsp90 protein | Target recognition | Transcription | Horticulture | Exons | Methyltransferase | Disorders | Geldanamycin | Gene deletion | Kinases | Tissues | Nuclei | Proteins | Clonal deletion | Calcium-binding protein | N-Methyltransferase | Penicillin | DNA methylation | Deletion | Localization | Gene expression | Patients | Golgi apparatus | Virology | Lysine | Nuclei (cytology) | Cytoplasm | Cancer | Calmodulin-lysine N-methyltransferase
Journal Article
MEDIZINISCHE GENETIK, ISSN 1863-5490, 12/2018, Volume 30, Issue 4, pp. 438 - 447
The incidence and prevalence of stone diseases have significantly increased over the last few years. It is crucial to correctly diagnose the underlying... 
DIAGNOSIS | Nephrocalcinosis | RISK-FACTORS | CYSTINURIA | Nephrolithiasis | Hypocitraturia | PRIMARY HYPEROXALURIA TYPE-1 | TRANSPLANTATION | CHILDREN | Hypercalciuria | GENETICS & HEREDITY | Hyperoxaluria | UROLITHIASIS | MUTATIONS
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 2013, Volume 22, Issue 15, pp. 3138 - 3151
Journal Article
Clinical Journal of the American Society of Nephrology, ISSN 1555-9041, 07/2015, Volume 10, Issue 7, pp. 1235 - 1245
Journal Article