-
1
-
-
0000820862
-
The Mucopolysaccharidoses
-
Scriver, C.R., Beaudet, A.L., Sly, W.S., and Valle, D., Eds., New York: McGraw-Hill
-
Neufeld, E. and Muenzer, J., The Mucopolysaccharidoses, The Metabolic and Molecular Bases of Inherited Disease, Scriver, C.R., Beaudet, A.L., Sly, W.S., and Valle, D., Eds., New York: McGraw-Hill, 1995.
-
(1995)
The Metabolic and Molecular Bases of Inherited Disease
-
-
Neufeld, E.1
Muenzer, J.2
-
2
-
-
0025769231
-
Human N-Acetylgalactosamine-4-Sulfatase: Protein Maturation and Isolation of Genomic Clones
-
Litjens, T., Morris, C.P., Gibson, G.J., et al., Human N-Acetylgalactosamine-4-Sulfatase: Protein Maturation and Isolation of Genomic Clones, Biochem. Int., 1991, vol. 24, pp. 209-215.
-
(1991)
Biochem. Int.
, vol.24
, pp. 209-215
-
-
Litjens, T.1
Morris, C.P.2
Gibson, G.J.3
-
3
-
-
0016200785
-
Maroteaux-Lamy Disease (Mucopolysaccharidosis VI), Subtype A: Deficiency of a N-Acetylgalactosamine-4-Sulfatase
-
O'Brien, J.S., Cantz, M., and Spranger, J., Maroteaux-Lamy Disease (Mucopolysaccharidosis VI), Subtype A: Deficiency of a N-Acetylgalactosamine-4-Sulfatase, Biochem. Biophys. Res. Commun., 1974, vol. 60, pp. 1170-1177.
-
(1974)
Biochem. Biophys. Res. Commun.
, vol.60
, pp. 1170-1177
-
-
O'Brien, J.S.1
Cantz, M.2
Spranger, J.3
-
4
-
-
0025666525
-
The Mucopolysaccharidosis: Diagnosis, Molecular Genetics, and Treatment
-
Hopwood, J.J. and Morris, C.P., The Mucopolysaccharidosis: Diagnosis, Molecular Genetics, and Treatment, Mol. Biol. Med., 1990, vol. 7, pp. 381-404.
-
(1990)
Mol. Biol. Med.
, vol.7
, pp. 381-404
-
-
Hopwood, J.J.1
Morris, C.P.2
-
5
-
-
0001509153
-
Une nouvelle dysostose avec elimination urinarie de chondroitine-sulfate B
-
Maroteaux, P., Levesque, B., Marie, J., and Lamy, M., Une nouvelle dysostose avec elimination urinarie de chondroitine-sulfate B, Press Med., 1963, vol. 71, pp. 1849-1851.
-
(1963)
Press Med.
, vol.71
, pp. 1849-1851
-
-
Maroteaux, P.1
Levesque, B.2
Marie, J.3
Lamy, M.4
-
6
-
-
0027604495
-
Structure of the Human Arylsulfatase B Gene
-
Modaressi, S., Rupp, K., von Figura, K., and Perets, C., Structure of the Human Arylsulfatase B Gene, Biol. Chem. Hoppe-Seyler, 1993, vol. 374, pp. 327-335.
-
(1993)
Biol. Chem. Hoppe-Seyler
, vol.374
, pp. 327-335
-
-
Modaressi, S.1
Rupp, K.2
Von Figura, K.3
Perets, C.4
-
7
-
-
0025253560
-
Phylogenetic Conservation of Arylsulfatases: cDNA Cloning and Expression of Human Arylsulfatase B
-
Peters, C., Schmidt, B., Rommerskirch, W., et al., Phylogenetic Conservation of Arylsulfatases: cDNA Cloning and Expression of Human Arylsulfatase B, J. Biol. Chem., 1990, vol. 265, pp. 3374-3381.
-
(1990)
J. Biol. Chem.
, vol.265
, pp. 3374-3381
-
-
Peters, C.1
Schmidt, B.2
Rommerskirch, W.3
-
8
-
-
0025372878
-
Human Arylsulfatase B: MOPAC Cloning, Nucleotide Sequence of a Full-Length cDNA and Regions of Amino Acid Identity with Arylsulfatases A and C
-
Schuchman, E.H., Jackson, C.E., and Desnick, R.J., Human Arylsulfatase B: MOPAC Cloning, Nucleotide Sequence of a Full-Length cDNA and Regions of Amino Acid Identity with Arylsulfatases A and C, Genomics, 1990, vol. 6, pp. 149-158.
-
(1990)
Genomics
, vol.6
, pp. 149-158
-
-
Schuchman, E.H.1
Jackson, C.E.2
Desnick, R.J.3
-
9
-
-
0028237027
-
Juvenile Form of Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome)
-
Arlt, G., Brooks, D.A., Isbrandt, D., et al., Juvenile Form of Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome), J. Biol. Chem., 1994, vol. 269, no. 13, pp. 9638-9643.
-
(1994)
J. Biol. Chem.
, vol.269
, Issue.13
, pp. 9638-9643
-
-
Arlt, G.1
Brooks, D.A.2
Isbrandt, D.3
-
10
-
-
0028117264
-
Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome): Six Unique Arylsulfatase B Gene Alleles Causing Different Disease Phenotypes
-
Isbrandt, D., Arlt, G., Brooks, D.A., et al., Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome): Six Unique Arylsulfatase B Gene Alleles Causing Different Disease Phenotypes, Am. J. Hum. Genet., 1994, vol. 54, pp. 454-463.
-
(1994)
Am. J. Hum. Genet.
, vol.54
, pp. 454-463
-
-
Isbrandt, D.1
Arlt, G.2
Brooks, D.A.3
-
11
-
-
0026550570
-
Mucopolysaccharidosis Type VI: Identification of Three Mutations in the Arylsulfatase B Gene of Patients with the Severe and Mild Phenotypes Provides Molecular Evidence for Genetic Heterogeneity
-
Jin, W.-D., Jackson, C.E., Desnick, R.J., and Schuchman, E.H., Mucopolysaccharidosis Type VI: Identification of Three Mutations in the Arylsulfatase B Gene of Patients with the Severe and Mild Phenotypes Provides Molecular Evidence for Genetic Heterogeneity, Am. J. Hum. Genet., 1992, vol. 50, pp. 795-800.
-
(1992)
Am. J. Hum. Genet.
, vol.50
, pp. 795-800
-
-
Jin, W.-D.1
Jackson, C.E.2
Desnick, R.J.3
Schuchman, E.H.4
-
12
-
-
0027026880
-
An N-Acetylgalactosamine-4-Sulphatase Mutation (G238) Results in a Severe Maroteaux-Lamy Phenotype
-
Litjens, T., Morris, C.P., Robertson, E.F., et al., An N-Acetylgalactosamine-4-Sulphatase Mutation (G238) Results in a Severe Maroteaux-Lamy Phenotype, Hum. Mutat., 1992, no. 1, pp. 397-402.
-
(1992)
Hum. Mutat.
, Issue.1
, pp. 397-402
-
-
Litjens, T.1
Morris, C.P.2
Robertson, E.F.3
-
13
-
-
22244482641
-
Hunter and Maroteaux-Lamy Syndromes: Mutation Analysis in Italian Patients
-
Wollongong
-
Villiani, G.R., Balzano, N., and Natale, P.D., Hunter and Maroteaux-Lamy Syndromes: Mutation Analysis in Italian Patients, 4th Int. Symp. on Mucopolysaccharide and Related Diseases, Wollongong, 1996.
-
(1996)
4th Int. Symp. on Mucopolysaccharide and Related Diseases
-
-
Villiani, G.R.1
Balzano, N.2
Natale, P.D.3
-
14
-
-
0028157578
-
Four Novel Mutant Alleles of the Arylsulfatase B Gene in Two Patients with Intermediate Form of Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome)
-
Voskoboeva, E., Isbrandt, D., von Figura, K., et al., Four Novel Mutant Alleles of the Arylsulfatase B Gene in Two Patients with Intermediate Form of Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome), Hum. Genet., 1994, vol. 93, pp. 259-264.
-
(1994)
Hum. Genet.
, vol.93
, pp. 259-264
-
-
Voskoboeva, E.1
Isbrandt, D.2
Von Figura, K.3
-
15
-
-
0025720685
-
Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome): An Intermediate Clinical Phenotype Caused by Substitution of Valine for Glycine at Position 137 of Arylsulfatase B
-
Wicker, G., Prill, V., Brooks, D., et al., Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome): An Intermediate Clinical Phenotype Caused by Substitution of Valine for Glycine at Position 137 of Arylsulfatase B, J. Biol. Chem., 1991, vol. 266, pp. 21 386-21 391.
-
(1991)
J. Biol. Chem.
, vol.266
, pp. 21386-21391
-
-
Wicker, G.1
Prill, V.2
Brooks, D.3
-
16
-
-
0016297322
-
Mitotic Cycles in Diploid Strains Originating from Donor Skin Obtained by Biopsy
-
Kukharenko, V.I., Kuliev, A.M., Grinberg, K.N., and Terskikh, V.V., Mitotic Cycles in Diploid Strains Originating from Donor Skin Obtained by Biopsy, Tsitologiya, 1984, vol. 16, no. 10, pp. 1228-1232.
-
(1984)
Tsitologiya
, vol.16
, Issue.10
, pp. 1228-1232
-
-
Kukharenko, V.I.1
Kuliev, A.M.2
Grinberg, K.N.3
Terskikh, V.V.4
-
17
-
-
0000457381
-
Preparation of Genomic DNA from Mammalian Tissue
-
Ausubel, F.M., et al., Eds., Massachusetts General Hospital
-
Strauss, W.M., Preparation of Genomic DNA from Mammalian Tissue, Current Protocols in Molecular Biology, Ausubel, F.M., et al., Eds., Massachusetts General Hospital, 1990, pp. 2.2.1-2.2.3.
-
(1990)
Current Protocols in Molecular Biology
-
-
Strauss, W.M.1
-
18
-
-
0023850178
-
Primer-Directed Enzymatic Amplification of DNA with a Thermostable DNA Polymerase
-
Saki, R.K., Gelfand, D.H., Stoffel, S., et al., Primer-Directed Enzymatic Amplification of DNA with a Thermostable DNA Polymerase, Science, 1988, vol. 239, pp. 487-491.
-
(1988)
Science
, vol.239
, pp. 487-491
-
-
Saki, R.K.1
Gelfand, D.H.2
Stoffel, S.3
-
19
-
-
0024400893
-
Rapid, Nonradioactive Detection of Mutations in the Human Genome by Allele-Specific Amplification
-
Okayama, H., Curiel, D.T., Brannly, M.L., et al., Rapid, Nonradioactive Detection of Mutations in the Human Genome by Allele-Specific Amplification, J. Lab. Clin. Med., 1989, vol. 114, pp. 105-109.
-
(1989)
J. Lab. Clin. Med.
, vol.114
, pp. 105-109
-
-
Okayama, H.1
Curiel, D.T.2
Brannly, M.L.3
-
20
-
-
0004136246
-
-
Cold Spring Harbor, New York: Cold Spring Harbor Lab.
-
Sambrook, J., Frisch, E.F., and Maniatis, T., Molecular Cloning: A Laboratory Manual, Cold Spring Harbor, New York: Cold Spring Harbor Lab., 1989.
-
(1989)
Molecular Cloning: A Laboratory Manual
-
-
Sambrook, J.1
Frisch, E.F.2
Maniatis, T.3
-
21
-
-
22244442360
-
-
Krasnopol'skaya, K.D., Mirenburg, T.V., Aronovich, E.L., et al., Programma profilaktiki nasledstvennykh lizosomnykh boleznei v SSSR (A Program of Preventing Hereditary Lysosomal Diseases in the Soviet Union), 1992, vol. 4, pp. 20-24.
-
(1992)
Programma Profilaktiki Nasledstvennykh Lizosomnykh Boleznei v SSSR (A Program of Preventing Hereditary Lysosomal Diseases in the Soviet Union)
, vol.4
, pp. 20-24
-
-
Krasnopol'skaya, K.D.1
Mirenburg, T.V.2
Aronovich, E.L.3
-
22
-
-
0025913846
-
A Common Polymorphism in the Human Arylsulfatase B (ARSB) Gene at 5q13-q14
-
Jin, W.D., Desnick, R.J., and Schuchman, E.H., A Common Polymorphism in the Human Arylsulfatase B (ARSB) Gene at 5q13-q14, Nucleic Acids Res., 1991, vol. 19, p. 4305.
-
(1991)
Nucleic Acids Res.
, vol.19
, pp. 4305
-
-
Jin, W.D.1
Desnick, R.J.2
Schuchman, E.H.3
-
23
-
-
0025605296
-
Prevalence of Different Types of Lysosomal Storage Diseases in Saudi Arabia
-
Ozand, P.T., Gascon, G., Ageel, A., et al., Prevalence of Different Types of Lysosomal Storage Diseases in Saudi Arabia, J. Inherited Metab. Dis., 1990, vol. 13, pp. 849-862.
-
(1990)
J. Inherited Metab. Dis.
, vol.13
, pp. 849-862
-
-
Ozand, P.T.1
Gascon, G.2
Ageel, A.3
-
24
-
-
22244441703
-
-
Lissens, W., De Gatte, L., Gossens, A., et al., Hydrobs Foetalis and β-Glucuronidase Deficiency, 8th ESGLD Workshop, 1991, p. 50.
-
(1991)
Hydrobs Foetalis and β-Glucuronidase Deficiency, 8th ESGLD Workshop
, pp. 50
-
-
Lissens, W.1
De Gatte, L.2
Gossens, A.3
|