Atypical expression of beta-galactosidase deficiency in a child with Hurler-like features but without neurological abnormalities.
Andria, G
Atypical expression of beta-galactosidase deficiency in a child with Hurler-like features but without neurological abnormalities. [electronic resource] - Clinical genetics Jul 1978 - 16-23 p. digital
Publication Type: Case Reports; Journal Article
0009-9163
10.1111/j.1399-0004.1978.tb02055.x doi
Eye Abnormalities
Fibroblasts--enzymology
Humans
Infant
Lactose Intolerance
Leukocytes--enzymology
Lysosomes--enzymology
Male
Mucopolysaccharidosis I--enzymology
Neurologic Manifestations
Atypical expression of beta-galactosidase deficiency in a child with Hurler-like features but without neurological abnormalities. [electronic resource] - Clinical genetics Jul 1978 - 16-23 p. digital
Publication Type: Case Reports; Journal Article
0009-9163
10.1111/j.1399-0004.1978.tb02055.x doi
Eye Abnormalities
Fibroblasts--enzymology
Humans
Infant
Lactose Intolerance
Leukocytes--enzymology
Lysosomes--enzymology
Male
Mucopolysaccharidosis I--enzymology
Neurologic Manifestations