-
1
-
-
0030803880
-
Glycogenosis type II: a juvenile specific mutation with an unusual splicing pattern and a shared mutation in African Americans
-
EM Adams JA Becker L Griffith A Segal PH Plotz N Raben Glycogenosis type II: a juvenile specific mutation with an unusual splicing pattern and a shared mutation in African Americans Hum Mutat 10 1997 128 134
-
(1997)
Hum Mutat
, vol.10
, pp. 128-134
-
-
Adams, EM1
Becker, JA2
Griffith, L3
Segal, A4
Plotz, PH5
Raben, N6
-
2
-
-
4243984430
-
Identification of a deletion common to adult and infantile onset acid alpha glucosidase deficiency
-
C Boerkoel N Raben F Martiniuk F Miller P Plotz Identification of a deletion common to adult and infantile onset acid alpha glucosidase deficiency Am J Hum Genet Suppl 51 1992 A347
-
(1992)
Am J Hum Genet
, Issue.Suppl 51
, pp. A347
-
-
Boerkoel, C1
Raben, N2
Martiniuk, F3
Miller, F4
Plotz, P5
-
3
-
-
85119807512
-
-
Curtin PD (1969) The Atlantic slave trade: a census. University of Wisconsin Press, Madison
-
-
-
-
4
-
-
85119802841
-
-
PD Curtin P Bohannon Africa and Africans 1988 Waveland Press Prospect Heights, IL
-
(1988)
-
-
Curtin, PD1
Bohannon, P2
-
5
-
-
0028557942
-
The effect of a single base pair deletion (delta T525) and a C1634T missense mutation (pro545leu) on the expression of lysosomal alpha-glucosidase in patients with glycogen storage disease type II
-
MM Hermans E de Graaff MA Kroos S Mohkamsing BJ Eussen M Joosse R Willemsen The effect of a single base pair deletion (delta T525) and a C1634T missense mutation (pro545leu) on the expression of lysosomal alpha-glucosidase in patients with glycogen storage disease type II Hum Mol Genet 3 1994 2213 2218
-
(1994)
Hum Mol Genet
, vol.3
, pp. 2213-2218
-
-
Hermans, MM1
de Graaff, E2
Kroos, MA3
Mohkamsing, S4
Eussen, BJ5
Joosse, M6
Willemsen, R7
-
6
-
-
0027439832
-
The conservative substitution Asp-645→Glu in lysosomal alpha-glucosidase affects transport and phosphorylation of the enzyme in an adult patient with glycogen-storage disease type II
-
MM Hermans E de Graaff MA Kroos HA Wisselaar R Willemsen BA Oostra AJ Reuser The conservative substitution Asp-645→Glu in lysosomal alpha-glucosidase affects transport and phosphorylation of the enzyme in an adult patient with glycogen-storage disease type II Biochem J 289 1993 a 687 693
-
(1993)
Biochem J
, vol.289
, pp. 687-693
-
-
Hermans, MM1
de Graaff, E2
Kroos, MA3
Wisselaar, HA4
Willemsen, R5
Oostra, BA6
Reuser, AJ7
-
7
-
-
0027221564
-
The loss of a polymorphic glycosylation site caused by Thr-927→Ile is linked to a second polymorphic Val-816→Ile substitution in lysosomal alpha-glucosidase of American blacks
-
MM Hermans LP Svetkey BA Oostra YT Chen AJ Reuser The loss of a polymorphic glycosylation site caused by Thr-927→Ile is linked to a second polymorphic Val-816→Ile substitution in lysosomal alpha-glucosidase of American blacks Genomics 16 1993 b 300 301
-
(1993)
Genomics
, vol.16
, pp. 300-301
-
-
Hermans, MM1
Svetkey, LP2
Oostra, BA3
Chen, YT4
Reuser, AJ5
-
8
-
-
0001448360
-
Glycogen storage disease type II: acid α-glucosidase (acid maltase deficiency)
-
R Hirschhorn ML Huie Glycogen storage disease type II: acid α-glucosidase (acid maltase deficiency) CR Scriver The metabolic and molecular basis of inherited disease 1997 McGraw-Hill New York (CD-ROM)
-
(1997)
-
-
Hirschhorn, R1
Huie, ML2
-
9
-
-
0028217853
-
A de novo 13 nt deletion, a newly identified C647W missense mutation and a deletion of exon 18 in infantile onset glycogen storage disease type II (GSDII)
-
ML Huie AS Chen S Sklower Brooks A Grix R Hirschhorn A de novo 13 nt deletion, a newly identified C647W missense mutation and a deletion of exon 18 in infantile onset glycogen storage disease type II (GSDII) Hum Mol Genet 3 1994 a 1081 1087
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1081-1087
-
-
Huie, ML1
Chen, AS2
Sklower Brooks, S3
Grix, A4
Hirschhorn, R5
-
10
-
-
0027937760
-
Mutation at the catalytic site (M519V) in glycogen storage disease type II (Pompe disease)
-
ML Huie R Hirschhorn AS Chen F Martiniuk N Zhong Mutation at the catalytic site (M519V) in glycogen storage disease type II (Pompe disease) Hum Mutat 4 1994 b 291 293
-
(1994)
Hum Mutat
, vol.4
, pp. 291-293
-
-
Huie, ML1
Hirschhorn, R2
Chen, AS3
Martiniuk, F4
Zhong, N5
-
11
-
-
0029384345
-
Glycogen storage disease type II: frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients
-
MA Kroos M Van der Kraan OP van Diggelen WJ Kleijer AJ Reuser MJ Van den Boogaard MG Ausems Glycogen storage disease type II: frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients J Med Genet 32 1995 836 837
-
(1995)
J Med Genet
, vol.32
, pp. 836-837
-
-
Kroos, MA1
Van der Kraan, M2
van Diggelen, OP3
Kleijer, WJ4
Reuser, AJ5
Van den Boogaard, MJ6
Ausems, MG7
-
12
-
-
0028960133
-
Identification of a de novo point mutation resulting in infantile form of Pompe's disease
-
CY Lin JJ Shieh Identification of a de novo point mutation resulting in infantile form of Pompe's disease Biochem Biophys Res Commun 208 1995 886 893
-
(1995)
Biochem Biophys Res Commun
, vol.208
, pp. 886-893
-
-
Lin, CY1
Shieh, JJ2
-
13
-
-
0030093811
-
Molecular study on the infantile form of Pompe disease in Chinese in Taiwan
-
CY Lin JJ Shieh Molecular study on the infantile form of Pompe disease in Chinese in Taiwan Acta Paediatr Sinica 37 1996 115 121
-
(1996)
Acta Paediatr Sinica
, vol.37
, pp. 115-121
-
-
Lin, CY1
Shieh, JJ2
-
14
-
-
0025934951
-
Identification of a missense mutation in an adult-onset patient with glycogenosis type II expressing only one allele
-
F Martiniuk M Mehler M Bodkin S Tzall K Hirschhorn N Zhong R Hirschhorn Identification of a missense mutation in an adult-onset patient with glycogenosis type II expressing only one allele DNA Cell Biol 10 1991 681 687
-
(1991)
DNA Cell Biol
, vol.10
, pp. 681-687
-
-
Martiniuk, F1
Mehler, M2
Bodkin, M3
Tzall, S4
Hirschhorn, K5
Zhong, N6
Hirschhorn, R7
-
15
-
-
0022859352
-
Isolation of a cDNA for human acid alpha-glucosidase and detection of genetic heterogeneity for mRNA in three alpha-glucosidase-deficient patients
-
F Martiniuk M Mehler A Pellicer S Tzall G La Badie C Hobart A Ellenbogen Isolation of a cDNA for human acid alpha-glucosidase and detection of genetic heterogeneity for mRNA in three alpha-glucosidase-deficient patients Proc Natl Acad Sci USA 83 1986 9641 9644
-
(1986)
Proc Natl Acad Sci USA
, vol.83
, pp. 9641-9644
-
-
Martiniuk, F1
Mehler, M2
Pellicer, A3
Tzall, S4
La Badie, G5
Hobart, C6
Ellenbogen, A7
-
16
-
-
85119791610
-
-
PJ Parish Slavery: history and historians 1989 Harper and Row New York
-
(1989)
-
-
Parish, PJ1
-
17
-
-
0029062275
-
Genetic defects in patients with glycogenosis type II (acid maltase deficiency)
-
N Raben RC Nichols C Boerkoel P Plotz Genetic defects in patients with glycogenosis type II (acid maltase deficiency) Muscle Nerve Suppl 3 1995 S70 S74
-
(1995)
Muscle Nerve
, Issue.Suppl 3
, pp. S70-S74
-
-
Raben, N1
Nichols, RC2
Boerkoel, C3
Plotz, P4
-
18
-
-
85119803213
-
-
JA Rawley The transatlantic slave trade: a history 1985 WW Norton New York
-
(1985)
-
-
Rawley, JA1
-
20
-
-
0028324975
-
Point mutation in Pompe disease in Chinese
-
JJ Shieh LY Wang CY Lin Point mutation in Pompe disease in Chinese J Inherit Metab Dis 17 1994 145 148
-
(1994)
J Inherit Metab Dis
, vol.17
, pp. 145-148
-
-
Shieh, JJ1
Wang, LY2
Lin, CY3
-
21
-
-
85119795798
-
-
J Thornton Africa and Africans in the making of the Atlantic world 1992 Cambridge University Press New York
-
(1992)
-
-
Thornton, J1
-
22
-
-
0029998764
-
Acid alpha-glucosidase deficiency: identification and expression of a missense mutation (S529V) in a Japanese adult phenotype
-
H Tsunoda T Ohshima J Tohyama M Sasaki N Sakuragawa F Martiniuk Acid alpha-glucosidase deficiency: identification and expression of a missense mutation (S529V) in a Japanese adult phenotype Hum Genet 97 1996 496 499
-
(1996)
Hum Genet
, vol.97
, pp. 496-499
-
-
Tsunoda, H1
Ohshima, T2
Tohyama, J3
Sasaki, M4
Sakuragawa, N5
Martiniuk, F6
-
23
-
-
85119810034
-
-
CM Turnbull Man in Africa 1977 Anchor Doubleday Garden City, NY
-
(1977)
-
-
Turnbull, CM1
-
26
-
-
0027392113
-
Structural and functional changes of lysosomal acid alpha-glucosidase during intracellular transport and maturation
-
HA Wisselaar M Kroos MM Hermans J van Beeumen AJ Reuser Structural and functional changes of lysosomal acid alpha-glucosidase during intracellular transport and maturation J Biol Chem 268 1993 2223 2231
-
(1993)
J Biol Chem
, vol.268
, pp. 2223-2231
-
-
Wisselaar, HA1
Kroos, M2
Hermans, MM3
van Beeumen, J4
Reuser, AJ5
-
27
-
-
0026006438
-
Identification of a missense mutation in one allele of a patient with Pompe disease, and use of endonuclease digestion of PCR-amplified RNA to demonstrate lack of mRNA expression from the second allele
-
N Zhong F Martiniuk S Tzall R Hirschhorn Identification of a missense mutation in one allele of a patient with Pompe disease, and use of endonuclease digestion of PCR-amplified RNA to demonstrate lack of mRNA expression from the second allele Am J Hum Genet 49 1991 635 645
-
(1991)
Am J Hum Genet
, vol.49
, pp. 635-645
-
-
Zhong, N1
Martiniuk, F2
Tzall, S3
Hirschhorn, R4
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