Diagnosis and management of glycogen storage disease type I: A practice guideline of the American College of Medical Genetics and Genomics

Genetics in Medicine

Volumn 16, Issue 11, 2014, Pages 1-29

  Kishnani, Priya S ^a   Austin, Stephanie L ^a   Abdenur, Jose E ^b   Arn, Pamela ^c   Bali, Deeksha S ^a   Boney, Anne ^a   Chung, Wendy K ^d   Dagli, Aditi I ^e   Dale, David ^f   Koeberl, Dwight ^a   Somers, Michael J ^g   Burns Wechsler, Stephanie ^a   Weinstein, David A ^e   Wolfsdorf, Joseph I ^g   Watson, Michael S ^h  

^a DUKE UNIVERSITY MEDICAL CENTER   (United States)

^b CHILDREN S HOSPITAL OF ORANGE COUNTY   (United States)

^c NEMOURS CHILDREN S CLINIC   (United States)

^d NewYork Presbyterian Hospital   (United States)

^e UNIVERSITY OF FLORIDA COLLEGE OF MEDICINE   (United States)

^f UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^g BOSTON CHILDREN S HOSPITAL   (United States)

^h American College of Medical Genetics   (United States)

Author keywords

glycogen storage disease; glycogen storage disease type I; von Gierke disease

Indexed keywords

AMINOCAPROIC ACID; AMYLASE; ANGIOTENSIN RECEPTOR ANTAGONIST; DIPEPTIDYL CARBOXYPEPTIDASE INHIBITOR; GLUCOSE; GRANULOCYTE COLONY STIMULATING FACTOR; IRON; PANCRELIPASE; STARCH; THIAZIDE DIURETIC AGENT; ANTIPORTER; GLUCOSE 6 PHOSPHATASE; GLUCOSE TRANSPORTER; SLC37A4 PROTEIN, HUMAN;

ANEMIA; ANESTHESIA; ARTICLE; BLOATING; BLOOD GLUCOSE MONITORING; BONE PAIN; CARDIOVASCULAR DISEASE; CONSENSUS DEVELOPMENT; DIAGNOSTIC TEST; DIARRHEA; DIET THERAPY; DIFFERENTIAL DIAGNOSIS; EVIDENCE BASED MEDICINE; GENETIC ANALYSIS; GENETIC COUNSELING; GENETIC SCREENING; GLOMERULONEPHRITIS; GLYCOGEN STORAGE DISEASE; GLYCOGEN STORAGE DISEASE TYPE 1; HEPATOMEGALY; HUMAN; HYPERCALCIURIA; HYPERSPLENISM; HYPOGLYCEMIA; IRON DEFICIENCY ANEMIA; LIVER ADENOMA; LIVER CELL CARCINOMA; LIVER TRANSPLANTATION; MEDICAL HISTORY; MEDICAL SOCIETY; MUCOSAL BLEEDING; NEUTROPENIA; PATIENT CARE; PRACTICE GUIDELINE; PREGNANCY; SPLENOMEGALY; UNITED STATES; GENETICS; GLYCOGEN STORAGE DISEASE TYPE I; PATHOLOGY;

ANTIPORTERS; DIAGNOSIS, DIFFERENTIAL; GLUCOSE-6-PHOSPHATASE; GLYCOGEN STORAGE DISEASE TYPE I; HUMANS; MONOSACCHARIDE TRANSPORT PROTEINS;

EID: 84908893179     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2014.128     Document Type: Article

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