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Glycogen storage diseases
被引:113
作者
:
Wolfsdorf, JI
论文数:
0
引用数:
0
h-index:
0
机构:
Div Endocrinol, Diabet Program, Boston, MA 02115 USA
Div Endocrinol, Diabet Program, Boston, MA 02115 USA
Wolfsdorf, JI
[
1
]
Weinstein, DA
论文数:
0
引用数:
0
h-index:
0
机构:
Div Endocrinol, Diabet Program, Boston, MA 02115 USA
Weinstein, DA
机构
:
[1]
Div Endocrinol, Diabet Program, Boston, MA 02115 USA
[2]
Childrens Hosp, Charles A Janeway Med Firm, Boston, MA 02115 USA
[3]
Harvard Univ, Sch Med, Boston, MA 02115 USA
来源
:
REVIEWS IN ENDOCRINE & METABOLIC DISORDERS
|
2003年
/ 4卷
/ 01期
关键词
:
ketotic hypoglycemia;
hepatomegaly;
glycogen storage disease;
D O I
:
10.1023/A:1021831621210
中图分类号
:
R5 [内科学];
学科分类号
:
1002 ;
100201 ;
摘要
:
引用
收藏
页码:95 / 102
页数:8
相关论文
共 41 条
[1]
HEPATIC GLYCOGEN-SYNTHETASE DEFICIENCY - DEFINITION OF SYNDROME FROM METABOLIC AND ENZYME STUDIES ON A 9-YEAR-OLD GIRL
[J].
AYNSLEYGREEN, A
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV OXFORD,JOHN RADCLIFFE HOSP,DEPT PAEDIAT,OXFORD OX3 9DU,ENGLAND
AYNSLEYGREEN, A
;
WILLIAMSON, DH
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV OXFORD,JOHN RADCLIFFE HOSP,DEPT PAEDIAT,OXFORD OX3 9DU,ENGLAND
WILLIAMSON, DH
;
GITZELMANN, R
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV OXFORD,JOHN RADCLIFFE HOSP,DEPT PAEDIAT,OXFORD OX3 9DU,ENGLAND
GITZELMANN, R
.
ARCHIVES OF DISEASE IN CHILDHOOD,
1977,
52
(07)
:573
-579
[2]
Isolation and nucleotide sequence of human liver glycogen debranching enzyme mRNA: identification of multiple tissue-specific isoforms
[J].
Bao, Y
论文数:
0
引用数:
0
h-index:
0
机构:
DUKE UNIV,MED CTR,DEPT PEDIAT,DURHAM,NC 27710
DUKE UNIV,MED CTR,DEPT PEDIAT,DURHAM,NC 27710
Bao, Y
;
Yang, BZ
论文数:
0
引用数:
0
h-index:
0
机构:
DUKE UNIV,MED CTR,DEPT PEDIAT,DURHAM,NC 27710
DUKE UNIV,MED CTR,DEPT PEDIAT,DURHAM,NC 27710
Yang, BZ
;
Dawson, TL
论文数:
0
引用数:
0
h-index:
0
机构:
DUKE UNIV,MED CTR,DEPT PEDIAT,DURHAM,NC 27710
DUKE UNIV,MED CTR,DEPT PEDIAT,DURHAM,NC 27710
Dawson, TL
;
Chen, YT
论文数:
0
引用数:
0
h-index:
0
机构:
DUKE UNIV,MED CTR,DEPT PEDIAT,DURHAM,NC 27710
DUKE UNIV,MED CTR,DEPT PEDIAT,DURHAM,NC 27710
Chen, YT
.
GENE,
1997,
197
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-398
[3]
Human glycogen debranching enzyme gene (AGL): Complete structural organization and characterization of the 5' flanking region
[J].
Bao, Y
论文数:
0
引用数:
0
h-index:
0
机构:
DUKE UNIV, MED CTR, DEPT PEDIAT, DURHAM, NC 27710 USA
DUKE UNIV, MED CTR, DEPT PEDIAT, DURHAM, NC 27710 USA
Bao, Y
;
Dawson, TL
论文数:
0
引用数:
0
h-index:
0
机构:
DUKE UNIV, MED CTR, DEPT PEDIAT, DURHAM, NC 27710 USA
DUKE UNIV, MED CTR, DEPT PEDIAT, DURHAM, NC 27710 USA
Dawson, TL
;
Chen, YT
论文数:
0
引用数:
0
h-index:
0
机构:
DUKE UNIV, MED CTR, DEPT PEDIAT, DURHAM, NC 27710 USA
DUKE UNIV, MED CTR, DEPT PEDIAT, DURHAM, NC 27710 USA
Chen, YT
.
GENOMICS,
1996,
38
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[4]
MEASUREMENT OF TRUE GLUCOSE PRODUCTION-RATES IN INFANCY AND CHILDHOOD WITH 6,6-DIDEUTEROGLUCOSE
[J].
BIER, DM
论文数:
0
引用数:
0
h-index:
0
机构:
WASHINGTON UNIV, SCH MED, DEPT MED, DIV METAB, ST LOUIS, MO 63110 USA
BIER, DM
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LEAKE, RD
论文数:
0
引用数:
0
h-index:
0
机构:
WASHINGTON UNIV, SCH MED, DEPT MED, DIV METAB, ST LOUIS, MO 63110 USA
LEAKE, RD
;
HAYMOND, MW
论文数:
0
引用数:
0
h-index:
0
机构:
WASHINGTON UNIV, SCH MED, DEPT MED, DIV METAB, ST LOUIS, MO 63110 USA
HAYMOND, MW
;
ARNOLD, KJ
论文数:
0
引用数:
0
h-index:
0
机构:
WASHINGTON UNIV, SCH MED, DEPT MED, DIV METAB, ST LOUIS, MO 63110 USA
ARNOLD, KJ
;
GRUENKE, LD
论文数:
0
引用数:
0
h-index:
0
机构:
WASHINGTON UNIV, SCH MED, DEPT MED, DIV METAB, ST LOUIS, MO 63110 USA
GRUENKE, LD
;
SPERLING, MA
论文数:
0
引用数:
0
h-index:
0
机构:
WASHINGTON UNIV, SCH MED, DEPT MED, DIV METAB, ST LOUIS, MO 63110 USA
SPERLING, MA
;
KIPNIS, DM
论文数:
0
引用数:
0
h-index:
0
机构:
WASHINGTON UNIV, SCH MED, DEPT MED, DIV METAB, ST LOUIS, MO 63110 USA
KIPNIS, DM
.
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[J].
Burwinkel, B
论文数:
0
引用数:
0
h-index:
0
机构:
Ruhr Univ Bochum, Inst Physiol Chem, D-44780 Bochum, Germany
Burwinkel, B
;
Amat, L
论文数:
0
引用数:
0
h-index:
0
机构:
Ruhr Univ Bochum, Inst Physiol Chem, D-44780 Bochum, Germany
Amat, L
;
Gray, RGF
论文数:
0
引用数:
0
h-index:
0
机构:
Ruhr Univ Bochum, Inst Physiol Chem, D-44780 Bochum, Germany
Gray, RGF
;
Matsuo, N
论文数:
0
引用数:
0
h-index:
0
机构:
Ruhr Univ Bochum, Inst Physiol Chem, D-44780 Bochum, Germany
Matsuo, N
;
论文数:
引用数:
h-index:
机构:
Muroya, K
;
Narisawa, K
论文数:
0
引用数:
0
h-index:
0
机构:
Ruhr Univ Bochum, Inst Physiol Chem, D-44780 Bochum, Germany
Narisawa, K
;
Sokol, RJ
论文数:
0
引用数:
0
h-index:
0
机构:
Ruhr Univ Bochum, Inst Physiol Chem, D-44780 Bochum, Germany
Sokol, RJ
;
Vilaseca, MA
论文数:
0
引用数:
0
h-index:
0
机构:
Ruhr Univ Bochum, Inst Physiol Chem, D-44780 Bochum, Germany
Vilaseca, MA
;
Kilimann, MW
论文数:
0
引用数:
0
h-index:
0
机构:
Ruhr Univ Bochum, Inst Physiol Chem, D-44780 Bochum, Germany
Ruhr Univ Bochum, Inst Physiol Chem, D-44780 Bochum, Germany
Kilimann, MW
.
HUMAN GENETICS,
1998,
102
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-429
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Mutation hotspots in the PHKA2 gene in X-linked liver glycogenosis due to phosphorylase kinase deficiency with atypical activity in blood cells (XLG2)
[J].
Burwinkel, B
论文数:
0
引用数:
0
h-index:
0
机构:
RUHR UNIV BOCHUM,FAK MED,INST PHYSIOL CHEM,D-44780 BOCHUM,GERMANY
Burwinkel, B
;
Shin, YS
论文数:
0
引用数:
0
h-index:
0
机构:
RUHR UNIV BOCHUM,FAK MED,INST PHYSIOL CHEM,D-44780 BOCHUM,GERMANY
Shin, YS
;
Bakker, HD
论文数:
0
引用数:
0
h-index:
0
机构:
RUHR UNIV BOCHUM,FAK MED,INST PHYSIOL CHEM,D-44780 BOCHUM,GERMANY
Bakker, HD
;
Deutsch, J
论文数:
0
引用数:
0
h-index:
0
机构:
RUHR UNIV BOCHUM,FAK MED,INST PHYSIOL CHEM,D-44780 BOCHUM,GERMANY
Deutsch, J
;
Lozano, MJ
论文数:
0
引用数:
0
h-index:
0
机构:
RUHR UNIV BOCHUM,FAK MED,INST PHYSIOL CHEM,D-44780 BOCHUM,GERMANY
Lozano, MJ
;
Maire, I
论文数:
0
引用数:
0
h-index:
0
机构:
RUHR UNIV BOCHUM,FAK MED,INST PHYSIOL CHEM,D-44780 BOCHUM,GERMANY
Maire, I
;
Kilimann, MW
论文数:
0
引用数:
0
h-index:
0
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RUHR UNIV BOCHUM,FAK MED,INST PHYSIOL CHEM,D-44780 BOCHUM,GERMANY
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HUMAN MOLECULAR GENETICS,
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0
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0
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0
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Ruhr Univ Bochum, Inst Physiol Chem, D-4630 Bochum, Germany
Burwinkel, B
;
Bakker, HD
论文数:
0
引用数:
0
h-index:
0
机构:
Ruhr Univ Bochum, Inst Physiol Chem, D-4630 Bochum, Germany
Bakker, HD
;
Herschkovitz, E
论文数:
0
引用数:
0
h-index:
0
机构:
Ruhr Univ Bochum, Inst Physiol Chem, D-4630 Bochum, Germany
Herschkovitz, E
;
Moses, SW
论文数:
0
引用数:
0
h-index:
0
机构:
Ruhr Univ Bochum, Inst Physiol Chem, D-4630 Bochum, Germany
Moses, SW
;
Shin, YS
论文数:
0
引用数:
0
h-index:
0
机构:
Ruhr Univ Bochum, Inst Physiol Chem, D-4630 Bochum, Germany
Shin, YS
;
Kilimann, MW
论文数:
0
引用数:
0
h-index:
0
机构:
Ruhr Univ Bochum, Inst Physiol Chem, D-4630 Bochum, Germany
Ruhr Univ Bochum, Inst Physiol Chem, D-4630 Bochum, Germany
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AMERICAN JOURNAL OF HUMAN GENETICS,
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0
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0
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0
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Good Samaritan Reg Med Ctr, City Hope Samaritan Bone Marrow Transplant Progra, Phoenix, AZ USA
Calderwood, S
;
Kilpatrick, L
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0
引用数:
0
h-index:
0
机构:
Good Samaritan Reg Med Ctr, City Hope Samaritan Bone Marrow Transplant Progra, Phoenix, AZ USA
Kilpatrick, L
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Douglas, SD
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0
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0
h-index:
0
机构:
Good Samaritan Reg Med Ctr, City Hope Samaritan Bone Marrow Transplant Progra, Phoenix, AZ USA
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Freedman, M
论文数:
0
引用数:
0
h-index:
0
机构:
Good Samaritan Reg Med Ctr, City Hope Samaritan Bone Marrow Transplant Progra, Phoenix, AZ USA
Freedman, M
;
Smith-Whitley, K
论文数:
0
引用数:
0
h-index:
0
机构:
Good Samaritan Reg Med Ctr, City Hope Samaritan Bone Marrow Transplant Progra, Phoenix, AZ USA
Smith-Whitley, K
;
Rolland, M
论文数:
0
引用数:
0
h-index:
0
机构:
Good Samaritan Reg Med Ctr, City Hope Samaritan Bone Marrow Transplant Progra, Phoenix, AZ USA
Rolland, M
;
Kurtzberg, J
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0
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0
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0
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Good Samaritan Reg Med Ctr, City Hope Samaritan Bone Marrow Transplant Progra, Phoenix, AZ USA
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0
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0
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0
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Natl Human Genome Res Inst, Lab Genet Dis Res, NIH, Bethesda, MD 20892 USA
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;
Rosenberg, MJ
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0
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0
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0
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Natl Human Genome Res Inst, Lab Genet Dis Res, NIH, Bethesda, MD 20892 USA
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0
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0
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0
机构:
Natl Human Genome Res Inst, Lab Genet Dis Res, NIH, Bethesda, MD 20892 USA
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;
Francomano, CA
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0
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0
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0
机构:
Natl Human Genome Res Inst, Lab Genet Dis Res, NIH, Bethesda, MD 20892 USA
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Biesecker, LG
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0
引用数:
0
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Natl Human Genome Res Inst, Lab Genet Dis Res, NIH, Bethesda, MD 20892 USA
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共 41 条
[1]
HEPATIC GLYCOGEN-SYNTHETASE DEFICIENCY - DEFINITION OF SYNDROME FROM METABOLIC AND ENZYME STUDIES ON A 9-YEAR-OLD GIRL
[J].
AYNSLEYGREEN, A
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV OXFORD,JOHN RADCLIFFE HOSP,DEPT PAEDIAT,OXFORD OX3 9DU,ENGLAND
AYNSLEYGREEN, A
;
WILLIAMSON, DH
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV OXFORD,JOHN RADCLIFFE HOSP,DEPT PAEDIAT,OXFORD OX3 9DU,ENGLAND
WILLIAMSON, DH
;
GITZELMANN, R
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV OXFORD,JOHN RADCLIFFE HOSP,DEPT PAEDIAT,OXFORD OX3 9DU,ENGLAND
GITZELMANN, R
.
ARCHIVES OF DISEASE IN CHILDHOOD,
1977,
52
(07)
:573
-579
[2]
Isolation and nucleotide sequence of human liver glycogen debranching enzyme mRNA: identification of multiple tissue-specific isoforms
[J].
Bao, Y
论文数:
0
引用数:
0
h-index:
0
机构:
DUKE UNIV,MED CTR,DEPT PEDIAT,DURHAM,NC 27710
DUKE UNIV,MED CTR,DEPT PEDIAT,DURHAM,NC 27710
Bao, Y
;
Yang, BZ
论文数:
0
引用数:
0
h-index:
0
机构:
DUKE UNIV,MED CTR,DEPT PEDIAT,DURHAM,NC 27710
DUKE UNIV,MED CTR,DEPT PEDIAT,DURHAM,NC 27710
Yang, BZ
;
Dawson, TL
论文数:
0
引用数:
0
h-index:
0
机构:
DUKE UNIV,MED CTR,DEPT PEDIAT,DURHAM,NC 27710
DUKE UNIV,MED CTR,DEPT PEDIAT,DURHAM,NC 27710
Dawson, TL
;
Chen, YT
论文数:
0
引用数:
0
h-index:
0
机构:
DUKE UNIV,MED CTR,DEPT PEDIAT,DURHAM,NC 27710
DUKE UNIV,MED CTR,DEPT PEDIAT,DURHAM,NC 27710
Chen, YT
.
GENE,
1997,
197
(1-2)
:389
-398
[3]
Human glycogen debranching enzyme gene (AGL): Complete structural organization and characterization of the 5' flanking region
[J].
Bao, Y
论文数:
0
引用数:
0
h-index:
0
机构:
DUKE UNIV, MED CTR, DEPT PEDIAT, DURHAM, NC 27710 USA
DUKE UNIV, MED CTR, DEPT PEDIAT, DURHAM, NC 27710 USA
Bao, Y
;
Dawson, TL
论文数:
0
引用数:
0
h-index:
0
机构:
DUKE UNIV, MED CTR, DEPT PEDIAT, DURHAM, NC 27710 USA
DUKE UNIV, MED CTR, DEPT PEDIAT, DURHAM, NC 27710 USA
Dawson, TL
;
Chen, YT
论文数:
0
引用数:
0
h-index:
0
机构:
DUKE UNIV, MED CTR, DEPT PEDIAT, DURHAM, NC 27710 USA
DUKE UNIV, MED CTR, DEPT PEDIAT, DURHAM, NC 27710 USA
Chen, YT
.
GENOMICS,
1996,
38
(02)
:155
-165
[4]
MEASUREMENT OF TRUE GLUCOSE PRODUCTION-RATES IN INFANCY AND CHILDHOOD WITH 6,6-DIDEUTEROGLUCOSE
[J].
BIER, DM
论文数:
0
引用数:
0
h-index:
0
机构:
WASHINGTON UNIV, SCH MED, DEPT MED, DIV METAB, ST LOUIS, MO 63110 USA
BIER, DM
;
LEAKE, RD
论文数:
0
引用数:
0
h-index:
0
机构:
WASHINGTON UNIV, SCH MED, DEPT MED, DIV METAB, ST LOUIS, MO 63110 USA
LEAKE, RD
;
HAYMOND, MW
论文数:
0
引用数:
0
h-index:
0
机构:
WASHINGTON UNIV, SCH MED, DEPT MED, DIV METAB, ST LOUIS, MO 63110 USA
HAYMOND, MW
;
ARNOLD, KJ
论文数:
0
引用数:
0
h-index:
0
机构:
WASHINGTON UNIV, SCH MED, DEPT MED, DIV METAB, ST LOUIS, MO 63110 USA
ARNOLD, KJ
;
GRUENKE, LD
论文数:
0
引用数:
0
h-index:
0
机构:
WASHINGTON UNIV, SCH MED, DEPT MED, DIV METAB, ST LOUIS, MO 63110 USA
GRUENKE, LD
;
SPERLING, MA
论文数:
0
引用数:
0
h-index:
0
机构:
WASHINGTON UNIV, SCH MED, DEPT MED, DIV METAB, ST LOUIS, MO 63110 USA
SPERLING, MA
;
KIPNIS, DM
论文数:
0
引用数:
0
h-index:
0
机构:
WASHINGTON UNIV, SCH MED, DEPT MED, DIV METAB, ST LOUIS, MO 63110 USA
KIPNIS, DM
.
DIABETES,
1977,
26
(11)
:1016
-1023
[5]
Variability of biochemical and clinical phenotype in X-linked liver glycogenosis with mutations in the phosphorylase kinase PHKA2 gene
[J].
Burwinkel, B
论文数:
0
引用数:
0
h-index:
0
机构:
Ruhr Univ Bochum, Inst Physiol Chem, D-44780 Bochum, Germany
Burwinkel, B
;
Amat, L
论文数:
0
引用数:
0
h-index:
0
机构:
Ruhr Univ Bochum, Inst Physiol Chem, D-44780 Bochum, Germany
Amat, L
;
Gray, RGF
论文数:
0
引用数:
0
h-index:
0
机构:
Ruhr Univ Bochum, Inst Physiol Chem, D-44780 Bochum, Germany
Gray, RGF
;
Matsuo, N
论文数:
0
引用数:
0
h-index:
0
机构:
Ruhr Univ Bochum, Inst Physiol Chem, D-44780 Bochum, Germany
Matsuo, N
;
论文数:
引用数:
h-index:
机构:
Muroya, K
;
Narisawa, K
论文数:
0
引用数:
0
h-index:
0
机构:
Ruhr Univ Bochum, Inst Physiol Chem, D-44780 Bochum, Germany
Narisawa, K
;
Sokol, RJ
论文数:
0
引用数:
0
h-index:
0
机构:
Ruhr Univ Bochum, Inst Physiol Chem, D-44780 Bochum, Germany
Sokol, RJ
;
Vilaseca, MA
论文数:
0
引用数:
0
h-index:
0
机构:
Ruhr Univ Bochum, Inst Physiol Chem, D-44780 Bochum, Germany
Vilaseca, MA
;
Kilimann, MW
论文数:
0
引用数:
0
h-index:
0
机构:
Ruhr Univ Bochum, Inst Physiol Chem, D-44780 Bochum, Germany
Ruhr Univ Bochum, Inst Physiol Chem, D-44780 Bochum, Germany
Kilimann, MW
.
HUMAN GENETICS,
1998,
102
(04)
:423
-429
[6]
Mutation hotspots in the PHKA2 gene in X-linked liver glycogenosis due to phosphorylase kinase deficiency with atypical activity in blood cells (XLG2)
[J].
Burwinkel, B
论文数:
0
引用数:
0
h-index:
0
机构:
RUHR UNIV BOCHUM,FAK MED,INST PHYSIOL CHEM,D-44780 BOCHUM,GERMANY
Burwinkel, B
;
Shin, YS
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0
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