Identification of AP2S1 mutation and effects of low calcium formula in an infant with hypercalcemia and hypercalciuria

Journal of Clinical Endocrinology and Metabolism

Volumn 98, Issue 12, 2013, Pages

  Fujisawa, Yasuko ^a   Yamaguchi, Rie ^a   Satake, Eiichirou ^a   Ohtaka, Konosuke ^a   Nakanishi, Toshiki ^a   Ozono, Keiichi ^b   Ogata, Tsutomu ^a  

^a HAMAMATSU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b OSAKA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM; CALCIUM SENSING RECEPTOR; CREATININE;

AP2S1 GENE; ARTICLE; BREAST FEEDING; BREAST MILK; CALCIUM BLOOD LEVEL; CALCIUM SENSING RECEPTOR GENE; CALCIUM URINE LEVEL; CASE REPORT; CATCH UP GROWTH; CREATININE URINE LEVEL; FEMALE; GENE; GENE MUTATION; GNA11 GENE; HETEROZYGOTE; HUMAN; HYPERCALCEMIA; HYPERCALCIURIA; INFANT; MUTATIONAL ANALYSIS; MUTATOR GENE; PRIORITY JOURNAL; SIGNAL TRANSDUCTION; WEIGHT GAIN;

ADAPTOR PROTEIN COMPLEX 2; ADAPTOR PROTEIN COMPLEX SIGMA SUBUNITS; AMINO ACID SUBSTITUTION; CALCIUM, DIETARY; FEMALE; HUMANS; HYPERCALCEMIA; INFANT; INFANT FORMULA; MUTATION; TREATMENT OUTCOME;

EID: 84889815331     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2013-2571     Document Type: Article

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