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Journal of Inherited Metabolic Disease

Volumn 33, Issue SUPPL. 3, 2010, Pages

Glycogen storage disease type III in the Irish population

(5) Crushell, Ellen a Treacy, Eileen P a Dawe, J b Durkie, M b Beauchamp, Nicholas J b

a CHILDREN S UNIVERSITY HOSPITAL (Ireland)

b SHEFFIELD CHILDREN'S NHS FOUNDATION TRUST (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

AMYLO-1,6-GLUCOSIDASE; GLYCOGEN DEBRANCHING ENZYME; AMYLO 1,6 GLUCOSIDASE;

ADOLESCENT; ADULT; CHILD; DEFICIENCY; DISEASE COURSE; ENZYMOLOGY; FEMALE; FOUNDER EFFECT; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; GENETICS; GLYCOGEN STORAGE DISEASE TYPE III; HEREDITY; HETEROZYGOTE; HOMOZYGOTE; HUMAN; INFANT; IRELAND; MALE; MUTATION; NEWBORN; NUCLEOTIDE SEQUENCE; PEDIGREE; PHENOTYPE; PRESCHOOL CHILD; SEVERITY OF ILLNESS INDEX; TREATMENT OUTCOME; YOUNG ADULT; ARTICLE; GLYCOGEN STORAGE DISEASE TYPE 3;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; DISEASE PROGRESSION; DNA MUTATIONAL ANALYSIS; FEMALE; FOUNDER EFFECT; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; GLYCOGEN DEBRANCHING ENZYME SYSTEM; GLYCOGEN STORAGE DISEASE TYPE III; HEREDITY; HETEROZYGOTE; HOMOZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; IRELAND; MALE; MUTATION; PEDIGREE; PHENOTYPE; SEVERITY OF ILLNESS INDEX; TREATMENT OUTCOME; YOUNG ADULT;

EID: 84897919200 PISSN: 01418955 EISSN: 15732665 Source Type: Journal
DOI: 10.1007/s10545-010-9096-4 Document Type: Article

Times cited : (19)

References (11)

1
- 34548449463
- Glycogen storage disease type IX: High variability in clinical phenotype
- Beauchamp NJ, Dalton A, Ramaswami U et al. (2007) Glycogen storage disease type IX: high variability in clinical phenotype. Mol Genet Metab 92:88-99
- (2007) Mol Genet Metab , vol.92 , pp. 88-99
- Beauchamp, N.J.¹ Dalton, A.² Ramaswami, U.³

2
- 0000171986
- Chapter 71. Glycogen storage disease
- Scriver C, Beaudet A, Sly W, Valle D et al. (eds) 8th edn. McGraw-Hill, New York
- Chen YT (2001) Chapter 71. Glycogen storage disease. In: Scriver C, Beaudet A, Sly W, Valle D et al. (eds) The metabolic and molecular bases of inherited disease, 8th edn. McGraw-Hill, New York, pp 1521-1551
- (2001) The Metabolic and Molecular Bases of Inherited Disease , pp. 1521-1551
- Chen, Y.T.¹

3
- 33751267177
- Molecular analysis of the agl gene: Heterogeneity of mutations in patients with glycogen storage disease type iii from germany, canada, afghanistan, iran, and turkey
- Endo Y, Horinishi A, Vorgerd M et al. (2006) Molecular analysis of the AGL gene: heterogeneity of mutations in patients with glycogen storage disease type III from Germany, Canada, Afghanistan, Iran, and Turkey. J Hum Genet 51:958-963
- (2006) J Hum Genet , vol.51 , pp. 958-963
- Endo, Y.¹ Horinishi, A.² Vorgerd, M.³

4
- 0014139817
- The determination of Amylo-1, 6-Glucosidase
- Hers HG, Verhue W, Hoof V (1967) The determination of Amylo-1, 6-Glucosidase. Eur J Biochem 2:257-264
- (1967) Eur J Biochem , vol.2 , pp. 257-264
- Hers, H.G.¹ Verhue, W.² Hoof, V.³

5
- 0036221990
- Mutational and haplotype analysis of AGL in patients with glycogen storage disease type III
- Horinishi A, Okubo M, Tang NL et al. (2002) Mutational and haplotype analysis of AGL in patients with glycogen storage disease type III. J Hum Genet 47:55-59
- (2002) J Hum Genet , vol.47 , pp. 55-59
- Horinishi, A.¹ Okubo, M.² Tang, N.L.³

6
- 0036569298
- Clinical and genetic variability of glycogen storage disease type IIIa: Seven novel AGL gene mutations in the Mediterranean Area
- Lucchiari S, Fogh I, Prelle A et al. (2002) Clinical and genetic variability of glycogen storage disease type IIIa: seven novel AGL gene mutations in the Mediterranean Area. Am J Med Genet 109:183-190
- (2002) Am J Med Genet , vol.109 , pp. 183-190
- Lucchiari, S.¹ Fogh, I.² Prelle, A.³

7
- 33745305424
- Neuromuscular forms of glycogenosis Type III: Nine mutations in AGL
- Mutation in brief, 897-online 2006
- Lucchiari S, Pagliarani S, Salani S et al. (2006) Neuromuscular forms of glycogenosis Type III: nine mutations in AGL. Hum Mut; Mutation in brief, 897-(2006), online
- (2006) Hum Mut
- Lucchiari, S.¹ Pagliarani, S.² Salani, S.³

8
- 0031948566
- A novel point mutation in an acceptor splice site of intron 32 (IVS32 A-12->G) but no exon 3 mutations in the glycogen debranching enzyme gene in a homozygous patient with glycogen storage disease type IIIb
- Okubo M, Horinishi A, Nakamura N et al. (1998) A novel point mutation in an acceptor splice site of intron 32 (IVS32 A-12->G) but no exon 3 mutations in the glycogen debranching enzyme gene in a homozygous patient with glycogen storage disease type IIIb. Hum Genet 102:1-5
- (1998) Hum Genet , vol.102 , pp. 1-5
- Okubo, M.¹ Horinishi, A.² Nakamura, N.³

9
- 84899049998
- Molecular genetic diagnosis of glycogen storage disease (GSD) type III: Experience from a large international cohort
- Santer R, Tsiakas K, Bergmann J et al. (2008) Molecular genetic diagnosis of glycogen storage disease (GSD) type III: experience from a large international cohort. J Inherit Metab Dis 31(Suppl 1):165
- (2008) J Inherit Metab Dis , vol.31 , Issue.SUPPL. 1 , pp. 165
- Santer, R.¹ Tsiakas, K.² Bergmann, J.³

10
- 0033952199
- Genotype-phenotype correlation in two frequent mutations and mutation update in type III glycogen storage disease
- Shaiu WL, Kishnani PS, Shen J et al. (2000) Genotype-phenotype correlation in two frequent mutations and mutation update in type III glycogen storage disease. Mol Genet Metab 69:16-23
- (2000) Mol Genet Metab , vol.69 , pp. 16-23
- Shaiu, W.L.¹ Kishnani, P.S.² Shen, J.³

11
- 0036079985
- Molecular characterization of glycogen storage disease type III
- Shen JJ, Chen YT (2002) Molecular characterization of glycogen storage disease type III. Curr Mol Med 2:167-175
- (2002) Curr Mol Med , vol.2 , pp. 167-175
- Shen, J.J.¹ Chen, Y.T.²

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