Hypomagnesemia-hypercalciuria-nephrocalcinosis and ocular findings: A new claudin-19 mutation

Turkish Journal of Pediatrics

Volumn 54, Issue 2, 2012, Pages 168-170

  Ekinci, Zelal ^a   Karabaş, Levent ^b   Konrad, Martin ^c  

^a Faculty of Medicine   (Turkey)

^b KOCAELI UNIVERSITY   (Turkey)

^c UNIVERSITY HOSPITAL MÜNSTER   (Germany)

Author keywords

Claudin 16; Claudin 19; Hypercalciuria; Hypomagnesemia; Myopia; Nephrocalcinosis; Nystagmus; Retinitis pigmentosa

Indexed keywords

CALCIUM; CITRIC ACID; CLAUDIN; CLAUDIN 19; MAGNESIUM; MAGNESIUM CITRATE; PARATHYROID HORMONE; THIAZIDE DIURETIC AGENT; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BIOMICROSCOPY; CALCIUM BLOOD LEVEL; CALCIUM URINE LEVEL; CASE REPORT; CHILD; CONSANGUINITY; CONVULSION; DIFFERENTIAL DIAGNOSIS; DNA DETERMINATION; ECHOGRAPHY; EYE EXAMINATION; FAMILIAL HYPOMAGNESEMIA WITH HYPERCALCIURIA AND NEPHROCALCINOSIS; FEMALE; HOMOZYGOSITY; HUMAN; HYPERCALCIURIA; HYPOMAGNESEMIA; KIDNEY CALCIFICATION; MAGNESIUM BLOOD LEVEL; MAGNESIUM URINE LEVEL; MEDICAL HISTORY; MYOPIA; NEONATAL HYPOMAGNESEMIC CONVULSION; NONSENSE MUTATION; NYSTAGMUS; PARATHYROID HORMONE BLOOD LEVEL; PHYSICAL EXAMINATION; POLYDIPSIA; POLYURIA; RETINA MACULOPATHY; RETINITIS PIGMENTOSA; SCHOOL CHILD; SPINAL PAIN; VASCULARIZATION; VISUAL ACUITY;

CHILD; CLAUDINS; CODON, NONSENSE; CONSANGUINITY; FEMALE; HOMOZYGOTE; HUMANS; HYPERCALCIURIA; MAGNESIUM DEFICIENCY; MYOPIA; NEPHROCALCINOSIS; NYSTAGMUS, PATHOLOGIC; RETINITIS PIGMENTOSA;

EID: 84863484719     PISSN: 00414301     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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