메뉴 건너뛰기




Volumn 11, Issue 3, 2014, Pages 318-323

Glycogen storage disease type III in Israel: Presentation and long Term Outcome

Author keywords

Debranching; Glycogen; GSD III; Metabolism

Indexed keywords

ACUTE KIDNEY FAILURE; ARAB; ARTICLE; BLOOD BIOCHEMISTRY; CLINICAL FEATURE; DIABETES MELLITUS; DIET THERAPY; DISEASE COURSE; EUROPEAN; FAMILY STUDY; FOLLOW UP; GLYCOGEN STORAGE DISEASE TYPE 3; GROWTH ACCELERATION; GROWTH DISORDER; HEPATOMEGALY; HUMAN; HYPOGLYCEMIA; ISRAEL; LONG TERM CARE; MOLECULAR BIOLOGY; MUSCLE HYPOTONIA; MUSLIM; MYOPATHY; NORTH AFRICAN; OSTEOPOROSIS; OUTCOME ASSESSMENT; PERSONAL EXPERIENCE; PHYSICAL DISEASE BY BODY FUNCTION; SOCIAL PSYCHOLOGY; ADOLESCENT; ADULT; AFRICA; CASE REPORT; CHILD; DIET RESTRICTION; ETHNOLOGY; EUROPE; FEMALE; GENETICS; HEART DISEASE; JEW; MALE; MUSCLE DISEASE; MUTATION; PRESCHOOL CHILD; RELIGION; REVIEW;

EID: 84899535561     PISSN: 15654753     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (9)

References (28)
  • 2
    • 0014089729 scopus 로고
    • Glycogen storage disease in Israel, A clinical, biochemical and genetic study
    • 1967
    • Levin S, Moses SW, Chayoth R., Steinitz K. Glycogen storage disease in Israel, A clinical, biochemical and genetic study. Isr J Med Sci 1967; 3:397-410, 1967
    • (1967) Isr J Med Sci , vol.3 , pp. 397-410
    • Levin, S.1    Moses, S.W.2    Chayoth, R.3    Steinitz, K.4
  • 6
    • 0021684232 scopus 로고
    • Myopathy and growth failure in debrancher enzyme deficiency: Improvement with high protein nocturnal therapy
    • Slonim AE, Coleman R, Moses SW, Myopathy and growth failure in debrancher enzyme deficiency: improvement with high protein nocturnal therapy. J Pediatr 1984; 105:905-911
    • (1984) J Pediatr , vol.105 , pp. 905-911
    • Slonim, A.E.1    Coleman, R.2    Moses, S.W.3
  • 8
    • 0030689829 scopus 로고    scopus 로고
    • A single base deletion in the 3'-coding region of glycogen debranching enzyme in glycogen storage disease type IIIa in a population of north African jewish patients
    • Parvarí R, Moses S, Shen J, Hershkovitz E, Lerner A, Chen YT. A single base deletion in the 3'-coding region of glycogen debranching enzyme in glycogen storage disease type IIIa in a population of North African Jewish Patients. Eur J Hum Genet 1997; 5:266-270
    • (1997) Eur J Hum Genet , vol.5 , pp. 266-270
    • Parvarí, R.1    Moses, S.2    Shen, J.3    Hershkovitz, E.4    Lerner, A.5    Chen, Y.T.6
  • 9
    • 0031980608 scopus 로고    scopus 로고
    • Two new mutations in the 3'-coding region of the glycogen debranching enzyme in a glycogen storage type IIIa ashkenazi jewish patient
    • Parvari R, Shen J, Hershkovitz E, Chen YT, Moses SW. Two new mutations in the 3'-coding region of the glycogen debranching enzyme in a glycogen storage type IIIa Ashkenazi Jewish patient. J Inherit Metab Dis 1998; 21:141-148
    • (1998) J Inherit Metab Dis , vol.21 , pp. 141-148
    • Parvari, R.1    Shen, J.2    Hershkovitz, E.3    Chen, Y.T.4    Moses, S.W.5
  • 11
    • 0030987931 scopus 로고    scopus 로고
    • Hepatocellular adenomas in glycogen storage disease type I and III: A series of 43 patients and review of the literature
    • Labrune P, Trioche P, Duvaltier I, Chevalier P, Odievre M. Hepatocellular adenomas in glycogen storage disease type I and III: a series of 43 patients and review of the literature. J Pediatr Gastroenterol Nutr 1997; 24:276-279
    • (1997) J Pediatr Gastroenterol Nutr , vol.24 , pp. 276-279
    • Labrune, P.1    Trioche, P.2    Duvaltier, I.3    Chevalier, P.4    Odievre, M.5
  • 15
  • 19
    • 33846594774 scopus 로고    scopus 로고
    • Nesiritide as bridge to multi-organ transplantation: A case report
    • Cochrane AB, Fedson SE, Cronin II DC Nesiritide as bridge to multi-organ transplantation: a case report. Transplant Proc 2007; 39:308-331
    • (2007) Transplant Proc , vol.39 , pp. 308-331
    • Cochrane, A.B.1    Fedson, S.E.2    Cronin, D.C.3
  • 20
    • 0015380392 scopus 로고
    • Gross cardiac involvement in glycogen storage disease type III
    • Miller CG, Alleyne GA, Brooks SEH Gross cardiac involvement in Glycogen Storage Disease type III. Br Heart J 1972; 34:862-864
    • (1972) Br Heart J , vol.34 , pp. 862-864
    • Miller, C.G.1    Alleyne, G.A.2    Brooks, S.E.H.3
  • 21
    • 0031012232 scopus 로고    scopus 로고
    • A nonsense mutation due to a single base insertion in the 3-coding region of the glycogen debranching enzyme gene associated with a severe phenotype in a patient with glycogen storage disease types IIIa
    • Shen J, Bao Y, Chen YT. A nonsense mutation due to a single base insertion in the 3--coding region of the glycogen debranching enzyme gene associated with a severe phenotype in a patient with Glycogen Storage Disease Types IIIa. Hum Mutat 1997; 9:37-40
    • (1997) Hum Mutat , vol.9 , pp. 37-40
    • Shen, J.1    Bao, Y.2    Chen, Y.T.3
  • 25
    • 0021684232 scopus 로고
    • Myopathy and growth failure in debrancher enzyme deficiency: Improvement with high-protein nocturnal enteral therapy
    • Slonim AE, Coleman RA, Moses WS. Myopathy and growth failure in debrancher enzyme deficiency: improvement with high-protein nocturnal enteral therapy. J Pediatr 1984; 105:906-911
    • (1984) J Pediatr , vol.105 , pp. 906-911
    • Slonim, A.E.1    Coleman, R.A.2    Moses, W.S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.