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Results of search for 'su:"Mucopolysaccharidoses"', page 99 of 109
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Authors
Cantz, M
Constantopoulos, G
Danes, B S
Desnick, R J
Dorfman, A
Giugliani, Roberto
Haskins, M E
Hopwood, J J
Jezyk, P F
Krasnopol'skaia, K D
Kresse, H
Lin, Shuan-Pei
Matalon, R
Neufeld, E F
Ockerman, P A
Orii, T
Patterson, D F
Spranger, J
Tomatsu, Shunji
von Figura, K
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Adolescent
Adult
Child
Child, Preschool
Female
Fibroblasts
Glycosaminoglycans
Humans
Infant
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Mucopolysaccharidoses
analysis
complications
diagnosis
enzymology
etiology
genetics
metabolism
pathology
urine
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1961.
Deficiencies of glucosamine-6-sulfate or galactosamine-6-sulfate sulfatases are responsible for different mucopolysaccharidoses.
[electronic resource]
by
Di Ferrante, N
Ginsberg, L C
Donnelly, P V
Di Ferrante, D T
Caskey, C T
Producer:
20070712
In:
Science (New York, N.Y.)
vol. 199
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1962.
Sialidosis: a review of human neuraminidase deficiency.
[electronic resource]
by
Lowden, J A
O'Brien, J S
Producer:
19790629
In:
American journal of human genetics
vol. 31
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1963.
The tilorone-induced mucopolysaccharidosis in rats. Biochemical investigations.
[electronic resource]
by
Prokopek, M
Producer:
19911231
In:
Biochemical pharmacology
vol. 42
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1964.
4-Methylumbelliferyl alpha-N-acetylglucosaminidase activity for diagnosis of Sanfilippo B disease.
[electronic resource]
by
Marsh, J
Fensom, A H
Producer:
19850606
In:
Clinical genetics
vol. 27
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1965.
Mucopolysaccharide-storage diseases: corrective activity of normal human serum and lymphocyte extracts.
[electronic resource]
by
Di Ferrante, N
Nichols, B L
Knudson, A G
McCredie, K B
Singh, J
Donnelly, P V
Producer:
19750227
In:
Birth defects original article series
vol. 9
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1966.
Enzyme patterns in tissues and body fluids in mucopolysaccharidoses.
[electronic resource]
by
Ockerman, P A
Hultberg, B
Eriksson, O
Producer:
19690908
In:
Clinica chimica acta; international journal of clinical chemistry
vol. 25
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1967.
The natural course and the impact of therapies of cardiac involvement in the mucopolysaccharidoses.
[electronic resource]
by
Fesslová, Vlasta
Corti, Paola
Sersale, Giovanna
Rovelli, Attilio
Russo, Pierluigi
Mannarino, Savina
Butera, Gianfranco
Parini, Rossella
Producer:
20090602
In:
Cardiology in the young
vol. 19
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1968.
Permanent t-tube insertion in two patients with Hurler's syndrome.
[electronic resource]
by
Oghan, Fatih
Harputluoglu, Ugur
Guclu, Ender
Guvey, Ali
Turan, Nursen
Ozturk, Ozcan
Producer:
20070612
In:
International journal of audiology
vol. 46
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1969.
Gene-Based Approaches to Inherited Neurometabolic Diseases.
[electronic resource]
by
Poletti, Valentina
Biffi, Alessandra
Producer:
20200327
In:
Human gene therapy
vol. 30
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1970.
Kyphosis secondary to skeletal dysplasias and metabolic disease.
[electronic resource]
by
Hensinger, R N
Producer:
19780321
In:
Clinical orthopaedics and related research
no. 128
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1971.
[Factors of phenotypic polymorphism and genetic consultation in thesaurismoses (review)].
[electronic resource]
by
Aĭngorn, E D
Timonina, O V
Koroleva, I A
Producer:
19810129
In:
Zhurnal nevropatologii i psikhiatrii imeni S.S. Korsakova (Moscow, Russia : 1952)
vol. 80
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1972.
Sulfatases, sulfate esters and their metabolic disorders.
[electronic resource]
by
Farooqui, A A
Producer:
19800423
In:
Clinica chimica acta; international journal of clinical chemistry
vol. 100
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1973.
Synthesis and degradation of hyaluronic acid in the cultured fibroblasts of Marfan's disease.
[electronic resource]
by
Lamberg, S I
Dorfman, A
Producer:
19731106
In:
The Journal of clinical investigation
vol. 52
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1974.
High-throughput determination of urinary hexosamines for diagnosis of mucopolysaccharidoses by capillary electrophoresis and high-performance liquid chromatography.
[electronic resource]
by
Coppa, Giovanni V
Galeotti, Fabio
Zampini, Lucia
Maccari, Francesca
Galeazzi, Tiziana
Padelia, Lucia
Santoro, Lucia
Gabrielli, Orazio
Volpi, Nicola
Producer:
20110523
In:
Analytical biochemistry
vol. 411
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1975.
Surgical management of neurological manifestations of mucopolysaccharidosis disorders.
[electronic resource]
by
Alden, Tord D
Amartino, Hernán
Dalla Corte, Amauri
Lampe, Christina
Harmatz, Paul R
Vedolin, Leonardo
Producer:
20181109
In:
Molecular genetics and metabolism
vol. 122S
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1976.
Normalization of glycosaminoglycan-derived disaccharides detected by tandem mass spectrometry assay for the diagnosis of mucopolysaccharidosis.
[electronic resource]
by
Lin, Hsiang-Yu
Lo, Yun-Ting
Wang, Tuan-Jen
Huang, Sung-Fa
Tu, Ru-Yi
Chen, Tzu-Lin
Lin, Shuan-Pei
Chuang, Chih-Kuang
Producer:
20201026
In:
Scientific reports
vol. 9
Online resources:
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1977.
Acid mucopolysaccharides (glycosaminoglycans) in normal human kidneys and in kidneys of patients with mucopolysaccharidoses.
[electronic resource]
by
Constantopoulos, G
Louie, M
Dekaban, A S
Producer:
19730906
In:
Biochemical medicine
vol. 7
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1978.
Status and prospects of research in hereditary deafness.
[electronic resource]
by
Nance, W E
McConnell, F E
Producer:
19740516
In:
Advances in human genetics
vol. 4
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1979.
[Human genetic counseling. II. Practical view points in counseling].
[electronic resource]
by
Körner, H
Grauel, E L
Producer:
19740823
In:
Zentralblatt fur Gynakologie
vol. 96
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1980.
Replacement of genotype-specific proteins in mucopolysaccharidoses.
[electronic resource]
by
Neufeld, E F
Producer:
19750227
In:
Birth defects original article series
vol. 9
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