Hemolytic anemia and distal renal tubular acidosis in two Indian patients homozygous for SLC4A1/AE1 mutation A858D

American Journal of Hematology

Volumn 85, Issue 10, 2010, Pages 824-828

  Shmukler, Boris E ^a,b   Kedar, Prabhakar S ^a,b,c   Warang, Prashant ^c   Desai, Mukesh ^d   Madkaikar, Manisha ^c   Ghosh, Kanjaksha ^c   Colah, Roshan B ^c   Alper, Seth L ^a,b  

^a BETH ISRAEL DEACONESS MEDICAL CENTER   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

^c INDIAN COUNCIL OF MEDICAL RESEARCH   (India)

^d B J WADIA HOSPITAL FOR CHILDREN   (India)

Author keywords

[No Author keywords available]

Indexed keywords

ALKALINE PHOSPHATASE; AMINOSALICYLIC ACID; BICARBONATE; BILIRUBIN; CALCIUM; CAPREOMYCIN; CITRATE POTASSIUM; CLOFAZIMINE; CREATININE; CYANOCOBALAMIN; CYCLOSERINE; ETHIONAMIDE; FOLIC ACID; GLUCOSE; HEMOGLOBIN; KANAMYCIN; MEMBRANE PROTEIN; MOXIFLOXACIN; OFLOXACIN; PROTEIN AE1; PROTEIN SLC4A1; PYRAZINAMIDE; UNCLASSIFIED DRUG; UREA; CODON; ERYTHROCYTE BAND 3 PROTEIN; SLC4A1 PROTEIN, HUMAN;

ALKALINE PHOSPHATASE BLOOD LEVEL; ARTICLE; BICARBONATE BLOOD LEVEL; BILIRUBIN BLOOD LEVEL; BLOOD PH; BLOOD TRANSFUSION; CALCIUM URINE LEVEL; CASE REPORT; CHILD; CREATININE BLOOD LEVEL; DISTAL RENAL TUBULAR ACIDOSIS; ECHOGRAPHY; GENE MUTATION; GLUCOSURIA; HEMOLYTIC ANEMIA; HEPATOSPLENOMEGALY; HETEROZYGOSITY; HUMAN; INDIA; INDIAN; KIDNEY CALCIFICATION; KIDNEY TUBULE ACIDOSIS; MALE; METABOLIC ACIDOSIS; MULTIDRUG RESISTANT TUBERCULOSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SPLENOMEGALY; UREA NITROGEN BLOOD LEVEL; URINE PH; VITAMIN BLOOD LEVEL; AMINO ACID SUBSTITUTION; ANEMIA, MACROCYTIC; CODON; COMPLICATION; CONSANGUINITY; EPIDEMIOLOGY; ETHNIC GROUP; GENETICS; HEREDITARY HEMOLYTIC ANEMIA; HOMOZYGOTE; INFANT; INTRON; MISSENSE MUTATION; PEDIGREE; PHYSIOLOGY; POINT MUTATION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM;

ACIDOSIS, RENAL TUBULAR; AMINO ACID SUBSTITUTION; ANEMIA, HEMOLYTIC, CONGENITAL; ANEMIA, MACROCYTIC; ANION EXCHANGE PROTEIN 1, ERYTHROCYTE; CHILD; CODON; CONSANGUINITY; ETHNIC GROUPS; HOMOZYGOTE; HUMANS; INDIA; INFANT; INTRONS; MUTATION, MISSENSE; PEDIGREE; POINT MUTATION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; TUBERCULOSIS, MULTIDRUG-RESISTANT;

EID: 77957669846     PISSN: 03618609     EISSN: 10968652     Source Type: Journal    
DOI: 10.1002/ajh.21836     Document Type: Article

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