Pearson syndrome: Unique endocrine manifestations including Neonatal Diabetes and adrenal insufficiency

Molecular Genetics and Metabolism

Volumn 106, Issue 1, 2012, Pages 104-107

  Williams, T B ^a   Daniels, M ^b   Puthenveetil, G ^c   Chang, R ^a   Wang, R Y ^a   Abdenur, J E ^a  

^a Division of Metabolic Disorders   (United States)

^b Division of Endocrinology   (United States)

^c Division of Hematology   (United States)

Author keywords

Adrenal insufficiency; Anemia; Mitochondrial disease; Mitochondrial DNA deletion; Neonatal diabetes; Pearson syndrome

Indexed keywords

CALCIUM CARBONATE; CARNITINE; CITRATE SODIUM; CITRIC ACID; CORTICOTROPIN; FLUDROCORTISONE; GLUCOSE; HEMOGLOBIN A1C; HYDROCORTISONE; INSULIN; IRON; LACTIC ACID; MAGNESIUM OXIDE; MITOCHONDRIAL DNA; MULTIVITAMIN; PANCREAS ENZYME; PHOSPHATE; RIBOFLAVIN; UBIQUINONE;

ADRENAL INSUFFICIENCY; ANEMIA; ARTICLE; BONE MARROW BIOPSY; CASE REPORT; CHILD; CHROMOSOME BREAKAGE; CORTICOTROPIN BLOOD LEVEL; DIABETES MELLITUS; DIABETIC KETOACIDOSIS; DNA SEQUENCE; DRUG DOSE REDUCTION; ERYTHROCYTE TRANSFUSION; FEMALE; GLUCOSE BLOOD LEVEL; GLYCEMIC CONTROL; HEMOGLOBIN BLOOD LEVEL; HUMAN; HUMAN TISSUE; HYDROCORTISONE BLOOD LEVEL; HYPERGLYCEMIA; INSULIN BLOOD LEVEL; INSULIN TREATMENT; IRON THERAPY; LACTATE BLOOD LEVEL; MACROCYTIC ANEMIA; MALE; MEDICAL RECORD REVIEW; METABOLIC ACIDOSIS; MITOCHONDRIAL DNA DEPLETION; MULTIPLE ORGAN FAILURE; MUSCLE BIOPSY; MUTATIONAL ANALYSIS; NEWBORN DIABETES MELLITUS; NEWBORN DISEASE; NEWBORN MORTALITY; PEARSON SYNDROME; POINT MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; RESPIRATORY FAILURE; SEPTIC SHOCK; SEQUENCE ANALYSIS;

ADRENAL INSUFFICIENCY; ANEMIA; ANEMIA, SIDEROBLASTIC; BLOOD GLUCOSE; DEVELOPMENTAL DISABILITIES; DIABETES MELLITUS; DNA, MITOCHONDRIAL; ENDOCRINE SYSTEM; FEMALE; HORMONE REPLACEMENT THERAPY; HUMANS; HYPERGLYCEMIA; INFANT, NEWBORN; INSULIN; MALE; MITOCHONDRIAL DISEASES; SEQUENCE DELETION;

EID: 84862794514     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2012.01.018     Document Type: Article

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