Concepedia
The Lancet · 1974 · 40 citations · 6 references
Life SciencesBiochemistryPediatricsHuman GeneticsEnzyme Deficiencies
6
A New Type of Mucolipidosis with β-Galactosidase Deficiency and Glycopeptiduria
Tadao Orii, Ryoji Minami, Kazuko Sukegawa et al. · The Tohoku Journal of Experimental Medicine · 1972 · 70 citations · Full text
Medicine, Nephrology, Pathology +13
ANGIOKERATOMA CORPORIS DIFFUSUM AND LYSOSOMAL ENZYME DEFICIENCY
Maarten J. J. E. Loonen, L. van der Lugt, Cees L. Franke · The Lancet · 1974 · 67 citations
Medicine, Dermatology, Pathology +8
Macular Cherry-Red Spot, Corneal Clouding, and ß-Galactosidase Deficiency
Morton F. Goldberg · Archives of Internal Medicine · 1971 · 64 citations
Life Sciences, Genetics, Ophthalmology +11
Juvenile GM1 Gangliosidosis
J. A. Lowden · Archives of Neurology · 1974 · 56 citations
Life Sciences, Biochemistry, Neurology +14
Localized beta-galactosidase deficiency. Occurrence in cerebellar ataxia with myoclonus epilepsy and macular cherry-red spot--a new variant of GM1-gangliosidosis?
Akira Yamamoto · Archives of Internal Medicine · 1974 · 54 citations
Life Sciences, Biochemistry, Neurology +11