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Volumn 90, Issue 3 SPEC. ISS., 2007, Pages 349-350

Glycogen storage disease type Ib without hypoglycemia

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID SEQUENCE; BONE MARROW BIOPSY; CASE REPORT; DIET SUPPLEMENTATION; FEMALE; GLUCOGENESIS; GLYCOGEN STORAGE DISEASE TYPE 1; HEMATOPOIESIS; HEPATOMEGALY; HUMAN; HYPOGLYCEMIA; LETTER; NEUTROPENIA; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; URINALYSIS;

EID: 33846905914     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2006.11.002     Document Type: Letter
Times cited : (4)

References (7)
  • 1
    • 0034243484 scopus 로고    scopus 로고
    • Molecular Analysis in Glycogen Storage Disease I non-A: DHPLC detection of the highly prevalent Exon 8 mutations of the GSPT1 gene in German patients
    • Santer R., Rischewski J., Block G., Kinner M., Wendel U., Schaub J., and Schneppenheim R. Molecular Analysis in Glycogen Storage Disease I non-A: DHPLC detection of the highly prevalent Exon 8 mutations of the GSPT1 gene in German patients. Hum. Mutat. 16 (2000) 177
    • (2000) Hum. Mutat. , vol.16 , pp. 177
    • Santer, R.1    Rischewski, J.2    Block, G.3    Kinner, M.4    Wendel, U.5    Schaub, J.6    Schneppenheim, R.7
  • 2
    • 0031940021 scopus 로고    scopus 로고
    • A new mutation of the glucose-6-phosphatase gene in a 4-year-old girl with oligosymptomatic glycogen storage disease type 1a
    • Keller K.M., Schutz M., Podskarbi T., Bindl L., Lentze M.J., and Shin Y.S. A new mutation of the glucose-6-phosphatase gene in a 4-year-old girl with oligosymptomatic glycogen storage disease type 1a. J. Pediatr. 132 (2000) 360-361
    • (2000) J. Pediatr. , vol.132 , pp. 360-361
    • Keller, K.M.1    Schutz, M.2    Podskarbi, T.3    Bindl, L.4    Lentze, M.J.5    Shin, Y.S.6
  • 3
    • 0033168957 scopus 로고    scopus 로고
    • Monogenic traits are not simple: lessons learned from phenylketonuria
    • Scriver C.R., and Waters P.J. Monogenic traits are not simple: lessons learned from phenylketonuria. Trends. Genet. 15 (1999) 267-272
    • (1999) Trends. Genet. , vol.15 , pp. 267-272
    • Scriver, C.R.1    Waters, P.J.2
  • 4
    • 0033799531 scopus 로고    scopus 로고
    • Modifier genes convert "simple" Mendelian disorders to complex traits
    • Dipple K.M., and McCabe E.R.B. Modifier genes convert "simple" Mendelian disorders to complex traits. Mol. Genet. Metab. 71 (2000) 43-50
    • (2000) Mol. Genet. Metab. , vol.71 , pp. 43-50
    • Dipple, K.M.1    McCabe, E.R.B.2
  • 5
    • 0033911995 scopus 로고    scopus 로고
    • Phenotypes of patients with "simple" Mendelian disorders are complex traits: thresholds, modifiers and system dynamics
    • Dipple K.M., and McCabe E.R.B. Phenotypes of patients with "simple" Mendelian disorders are complex traits: thresholds, modifiers and system dynamics. Am. J. Hum. Genet. 66 (2000) 45-50
    • (2000) Am. J. Hum. Genet. , vol.66 , pp. 45-50
    • Dipple, K.M.1    McCabe, E.R.B.2
  • 6
    • 0034788710 scopus 로고    scopus 로고
    • Consequences of complexicity within biological networks: robustness and health, or vulnerability and disease
    • Dipple K.M., Phelan J.K., and McCabe E.R.B. Consequences of complexicity within biological networks: robustness and health, or vulnerability and disease. Mol. Genet. Metab. 74 (2001) 45-50
    • (2001) Mol. Genet. Metab. , vol.74 , pp. 45-50
    • Dipple, K.M.1    Phelan, J.K.2    McCabe, E.R.B.3
  • 7
    • 0033803952 scopus 로고    scopus 로고
    • Synergistic heterozygosity: disease resulting from multiple partial defects in one or more metabolic pathways
    • Vockley J., Rinaldo P., Bennet M.J., Matern D., and Vladutiu G.D. Synergistic heterozygosity: disease resulting from multiple partial defects in one or more metabolic pathways. Mol. Genet. Metab. 71 (2000) 10-18
    • (2000) Mol. Genet. Metab. , vol.71 , pp. 10-18
    • Vockley, J.1    Rinaldo, P.2    Bennet, M.J.3    Matern, D.4    Vladutiu, G.D.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.