-
1
-
-
0030054818
-
Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle
-
Shen J, Bao Y, Liu HM, et al. Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle. J Clin Invest 1996;98:352-7. (Pubitemid 26255733)
-
(1996)
Journal of Clinical Investigation
, vol.98
, Issue.2
, pp. 352-357
-
-
Shen, J.1
Bao, Y.2
Liu, H.-M.3
Lee, P.4
Leonard, J.V.5
Chen, Y.-T.6
-
2
-
-
2142857791
-
Mutational analysis of the AGL gene: Five novel mutations in GSD III patients
-
Lucchiari S, Donati MA, Melis D, et al. Mutational analysis of the AGL gene: five novel mutations in GSD III patients. Hum Mutat 2003;22:337.
-
(2003)
Hum. Mutat.
, vol.22
, pp. 337
-
-
Lucchiari, S.1
Donati, M.A.2
Melis, D.3
-
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
-
DOI 10.1007/s10038-006-0045-x
-
Endo Y, Horinishi A, Vorgerd M, et al. 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 2006;51:958-63. (Pubitemid 44800740)
-
(2006)
Journal of Human Genetics
, vol.51
, Issue.11
, pp. 958-963
-
-
Endo, Y.1
Horinishi, A.2
Vorgerd, M.3
Aoyama, Y.4
Ebara, T.5
Murase, T.6
Odawara, M.7
Podskarbi, T.8
Shin, Y.S.9
Okubo, M.10
-
6
-
-
51849156461
-
Biochemical and molecular investigation of two korean patients with glycogen storgae disease type III
-
Oh SH, Park HD, Ki CS, et al. Biochemical and molecular investigation of two Korean patients with glycogen storgae disease type III. Clin Chem Lab Med 2008;46:1245-9.
-
(2008)
Clin. Chem. Lab. Med.
, vol.46
, pp. 1245-1249
-
-
Oh, S.H.1
Park, H.D.2
Ki, C.S.3
-
7
-
-
57649225514
-
Hyperlipidemia in glycogen storage disease type III: Effect of age and metabolic control
-
Bernier AV, Sentner CP, Correia CE, et al. Hyperlipidemia in glycogen storage disease type III: effect of age and metabolic control. J Inherit Metab Dis 2008;31:729-32.
-
(2008)
J. Inherit. Metab. Dis.
, vol.31
, pp. 729-732
-
-
Bernier, A.V.1
Sentner, C.P.2
Correia, C.E.3
-
8
-
-
70349838584
-
Egyptian glycogen storage disease type III-identification of six novel AGL mutations including a large 1.5 kb deletion and a missense mutation p.L620P with subtype IIId
-
Endo Y, Fateen E, El Shabrawy M, et al. Egyptian glycogen storage disease type III-identification of six novel AGL mutations, including a large 1.5 kb deletion and a missense mutation p.L620P with subtype IIId. Clin Chem Lab Med 2009;47:1233-8.
-
(2009)
Clin. Chem. Lab. Med.
, vol.47
, pp. 1233-1238
-
-
Endo, Y.1
Fateen, E.2
El Shabrawy, M.3
-
9
-
-
0027057809
-
Glycogen debranching enzyme deficiency: Long-term study of serum enzyme activities and clinical features
-
DOI 10.1007/BF01800225
-
Coleman RA, Winter HS, Wolf B, et al. Glycogen debranching enzyme deficiency: long-term study of serum enzyme activities and clinical features. J Inherit Metab Dis 1992;15:869-81. (Pubitemid 23023190)
-
(1992)
Journal of Inherited Metabolic Disease
, vol.15
, Issue.6
, pp. 869-881
-
-
Coleman, R.A.1
Winter, H.S.2
Wolf, B.3
Chen, Y.-T.4
-
10
-
-
0035721156
-
Severe hypoglycaemia in a patient with glycogen storage type III induced by infectious mononucleosis
-
DOI 10.1023/A:1013900526628
-
Kimura T, Ikeda H, Kato M, et al. Severe hypoglycemia in a patient with glycogen storage disease type III induced by infectious mononucleosis. J Inherit Metab Dis 2001;24:873-4. (Pubitemid 34189400)
-
(2001)
Journal of Inherited Metabolic Disease
, vol.24
, Issue.8
, pp. 873-874
-
-
Kimura, T.1
Ikeda, H.2
Kato, M.3
Ito, A.4
Okubo, M.5
Hayasaka, K.6
-
11
-
-
0242380330
-
A simple, rapid test for the differential diagnosis of glycogen storage disease type 3
-
DOI 10.1016/S0009-8981(03)00234-1
-
Bhuiyan J, Al Odaib AN, Ozand PT. A simple, rapid test for the differential diagnosis of glycogen storage disease type 3. Clin Chem Acta 2003;335:21-6. (Pubitemid 37338303)
-
(2003)
Clinica Chimica Acta
, vol.335
, Issue.1-2
, pp. 21-26
-
-
Bhuiyan, J.1
Al Odaib, A.N.2
Ozand, P.T.3
-
12
-
-
22044441965
-
Relative elevations of serum alanine and aspartate aminotransferase in muscular dystrophy
-
DOI 10.1097/01.WNO.0000161657.98895.97
-
Kohli R, Harris DC, Whitington PF. Relative elevations of serum alanine and aspartate aminotransferase in muscular dystrophy. J Pediatr Gastroenterol Nutr 2005;41:121-4. (Pubitemid 40967367)
-
(2005)
Journal of Pediatric Gastroenterology and Nutrition
, vol.41
, Issue.1
, pp. 121-124
-
-
Kohli, R.1
Harris, D.C.2
Whitington, P.F.3
-
13
-
-
77955155274
-
Glycogen storage disease type III diagnosis and management guidelines
-
Kishnani PS, Austin SL, Arn P, et al. Glycogen storage disease type III diagnosis and management guidelines. Genet Med 2010; 12:446-63.
-
(2010)
Genet. Med.
, vol.12
, pp. 446-463
-
-
Kishnani, P.S.1
Austin, S.L.2
Arn, P.3
|