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( 3 - Galacto - sidase deficiency in juvenile and adult patients . Report of six Japanese cases and review of literature
G. Thomas, L. Reynolds, C. Miller (1979)
Characterization of neuraminidase activity of cultured human fibroblasts.Biochimica et biophysica acta, 568 1
A. Frisch, E. Neufeld (1979)
A rapid and sensitive assay for neuraminidase: Application to cultured flbroblastsAnalytical Biochemistry, 95
J. O'brien (1977)
Neuraminidase deficiency in the cherry red spot-myoclonus syndrome.Biochemical and biophysical research communications, 79 4
R. Letson, R. Desnick (1978)
Punctate lenticular opacities in type II mannosidosis.American journal of ophthalmology, 85 2
Y. Suzuki, N. Nakamura, Y. Shimada, H. Yotsumoto, H. Endo, K. Nagashima (1977)
Macular cherry-red spots and beta-galactosidase deficiency in an adult. An autopsy case with progressive cerebellar ataxia, myoclonus, thrombocytopathy, and accumulation of polysaccharide in liver.Archives of neurology, 34 3
H. Taylor, G. Thomas, C. Miller, T. Kelly, D. Siggers (1973)
Mucolipidosis III (pseudo‐Hurler polydystrophy): Cytological and ultrastructural observations of cultured fibroblast cellsClinical Genetics, 4
Increased sialic acid content and deficiency of an a-N-acetyl-neuraminidase in cultured fibroblasts
H. Taylor, G. Thomas, A. Aylsworth, R. Stevenson, L. Reynolds (1975)
Mannosidosis: Deficiency of a specific α-mannosidase component in cultured fibroblastsClinica Chimica Acta, 59
(1979)
A rapid and sensitive assay for neuraminidase
R. Bayliss (1967)
Book Review: The Metabolic Basis of Inherited DiseaseJournal of the Royal Society of Medicine, 60
M. Cantz, J. Gehler, J. Spranger (1977)
Mucolipidosis I: increased sialic acid content and deficiency of an alpha-N-acetylneuraminidase in cultured fibroblasts.Biochemical and biophysical research communications, 74 2
G. Thomas, R. Tipton, L. Ch'ien, L. Reynolds, C. Miller (1978)
Sialidase (α‐N‐acetyl neuraminidase) deficiency: the enzyme defect in an adult with macular cherry‐red spots and myoclonus without dementiaClinical Genetics, 13
K. Lie, G. Thomas, H. Taylor, J. Sensenbrenner (1973)
Analysis of N-acetyl- -D-glucosaminidase in mucolipidosis II (I-cell disease).Clinica chimica acta; international journal of clinical chemistry, 45 3
Unpublished data
19.59). The thiobarbituric assay of sialic acids
P. Justice, D. Wenger, Sakkubal Naldu, I. Rosenthal (1977)
ENZYMATIC STUDIES OF A NEW VARIANT OF GM1 GANGLIOSIDOSIS IN AN OLDER CHILDPediatric Research, 11
(1979)
A rapid and sensitive assay for neuraminidase : Applica - 391 - 400 . 699 - 706 . tion to cultured fibroblasts
(1970)
The genetic mucolipidoses : Diagnoses and differential diagnosis
Endo (1977)
A new type of mucolipidosis associated with hereditary thrombocytopathy and color blindnessActa path. jap., 27
J. Fratantoni, C. Hall, E. Neufeld (1968)
The defect in Hurler's and Hunter's syndromes: faulty degradation of mucopolysaccharide.Proceedings of the National Academy of Sciences of the United States of America, 60 2
(1975)
The thiobarbituric assay of sialic acids
(1978)
The cherry-red spotmyoclonus syndrome
I. Rapin, S. Goldfischer, R. Katzman, J. Engel, J. O'brien (1978)
The cherry‐red spot‐myoclonus syndromeAnnals of Neurology, 3
J. Sphranger, J. Gehler, M. Cantz (1977)
Mucolipidosis I--a sialidosis.American journal of medical genetics, 1 1
(1971)
Macular cherry-red spot, corneal clouding, and 6-galactosidase deficiency
M. Nahata, P. Sethi, M. Chhabra, J. Khandekar, V. Dixit, D. Mukerji (1971)
Juvenile amaurotic family idiocy with cherry-red spot and cataract.Indian journal of ophthalmology, 19 3
P. Durand, R. Gatti, S. Cavalieri, C. Borrone, M. Tondeur, J. Michalski, G. Strecker (1977)
Sialidosis (mucolipidosis I).Helvetica paediatrica acta, 32 4-5
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Sialid - osis ( mucolipidosis I ) . Helv . paediat
H. Endo, S. Al-Samarrai, K. Sakakibara, K. Nagashima, Y. Shimada (1977)
A NEW TYPE OF MUCOLIPIDOSIS ASSOCIATED WITH HEREDITARY THROMBOCYTOPATHY AND COLOR BLINDNESSPathology International, 27
(1976)
Two siblings with mucolipidosis
D. Wenger, T. Tarby, C. Wharton (1978)
Macular cherry-red spots and myoclonus with dementia: coexistent neuraminidase and beta-galactosidase deficiencies.Biochemical and biophysical research communications, 82 2
Z. Dische (1965)
GLYCOPROTEINS OF THE LENS.Investigative ophthalmology, 4
L. Warren (1959)
The thiobarbituric acid assay of sialic acids.The Journal of biological chemistry, 234 8
Annual Review of Birth Defects, 1977 -Part B -Recent Advances and New Syndromes
(1974)
Localized (3-galactosidase deficiency. Occurrence in cerebellar ataxia with myoclonus epilepsy and macular cherry-red spot -a new variant of GM,-gangliosidosis?
J. O'Brien (1978)
The cherry red spot—myoclonus syndrome: A newly recognized inherited lysosomal storage disease due to acid neuraminidase deficiencyClinical Genetics, 14
J. Spranger, M. Cantz (1978)
Mucolipidosis I, the cherry red-spot--myoclonus syndrome and neuraminidase deficiency.Birth defects original article series, 14 6B
tion to cultured fibroblasts
Kenneth Jones, N. Anderson, J. Addison (1977)
INHIBITION OF GROWTH AND DNA SYNTHESIS OF CELLS FROM AN ALVEOLAR CELL CARCINOMA BY GLUCOCORTICOIDSPediatric Research, 11
Akira Yamamoto, S. Adachi, Shuji Kawamura, Mitsuo Takahashi, T. Kitani, Toshifumi Ohtori, Y. Shinji, Mitsuo Nishikawa (1974)
Localized beta-galactosidase deficiency. Occurrence in cerebellar ataxia with myoclonus epilepsy and macular cherry-red spot--a new variant of GM1-gangliosidosis?Archives of internal medicine, 134 4
M. Goldberg, E. Cotlier, Larry Fichenscher, K. Kenyon, K. Kenyon, R. Enat, S. Borowsky (1971)
Macular cherry-red spot, corneal clouding, and beta-galactosidase deficiency. Clinical, biochemical, and electron microscopic study of a new autosomal recessive storage disease.Archives of internal medicine, 128 3
(1977)
1977a). (3-Galactosidase deficiency in juvenile and adult patients
(1975)
A case of mucolipidosis
(1977)
Macular cherry-red spots and (3-galactosidase deficiency in an adult. An autopsy case with progressive cerebellar ataxia, myoclonus
T. Orii, R. Minami, K. Sukegawa, S. Sato, S. Tsugawa, K. Horino, Ryoichi Miura, T. Nakao (1972)
A new type of mucolipidosis with -galactosidase deficiency and glycopeptiduria.The Tohoku journal of experimental medicine, 107 4
Homogenates of cultured skin fibroblasts from a non-ambulatory, 20-year-old male with cherry-red spots, corneal clouding, seizures, mental retardation, dysostosis multiplex, dwarfism, coarse facies and loss of vision, originally described by Goldberg et al. (1971), have diminished neuraminidase activity and an excess of neuraminic acid-rich compounds. Specifically, these cells have 2–17 % normal neuraminidase when measured with 2-(3′ meth-oxyphenyl)-N-acetyl-α-neuraminic acid, N-acetyl-neuramin-lactose and fetuin. Activities of 12 other lysosomal enzymes were either at or above the range of normal control fibroblasts. Total neuraminic acid concentration was 44.3 nmol/mg protein versus an average control value of 14.2. It is concluded that the Goldberg syndrome should be considered, along with mucolipidosis I and the cherry-red spot - myoclonus syndrome, as resulting from a primary neuraminidase deficiency.
Clinical Genetics – Wiley
Published: Nov 1, 1979
Keywords: Cherry-red spot; Goldberg Syndrome; mucolipidosis I; myoclonus; neuraminic acid; neuraminidase deficiency
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