-transparent.png){kind=logo}
A 14-year-old girl with a unique type of progressive spondyloepiphyseal dysplasia, corneal clouding, and no evidence of neurological abnormality, was found to have a remarkable deficiency of acid beta-galactosidase activity in cultured skin fibroblasts and in leucocyte preparations. In fibroblasts, ganglioside GM1 beta-galactosidase activity averaged 7% of the normal mean while asialofetuin beta-galactosidase and 4-methylumbe lifery-beta-galactosidase averaged 1.4% and 3.5%, respectively. Activities for all three substrates in leucocytes from both her parents were close to 50% of the normal mean indicating that the patient is homozygous for a mutation (or mutations) affecting GM1 beta-galactosidase.
J S O'Brien, and
E Gugler, and
A Giedion, and
U Wiessmann, and
N Herschkowitz, and
C Meier, and
J Leroy
January 1983,
Human genetics,
J S O'Brien, and
E Gugler, and
A Giedion, and
U Wiessmann, and
N Herschkowitz, and
C Meier, and
J Leroy
January 2000,
Japanese journal of ophthalmology,
J S O'Brien, and
E Gugler, and
A Giedion, and
U Wiessmann, and
N Herschkowitz, and
C Meier, and
J Leroy
May 1994,
Cornea,
J S O'Brien, and
E Gugler, and
A Giedion, and
U Wiessmann, and
N Herschkowitz, and
C Meier, and
J Leroy
September 1971,
Archives of internal medicine,
J S O'Brien, and
E Gugler, and
A Giedion, and
U Wiessmann, and
N Herschkowitz, and
C Meier, and
J Leroy
May 1978,
Nihon rinsho. Japanese journal of clinical medicine,
J S O'Brien, and
E Gugler, and
A Giedion, and
U Wiessmann, and
N Herschkowitz, and
C Meier, and
J Leroy
January 1974,
Birth defects original article series,
J S O'Brien, and
E Gugler, and
A Giedion, and
U Wiessmann, and
N Herschkowitz, and
C Meier, and
J Leroy
April 1983,
Journal of medical genetics,
J S O'Brien, and
E Gugler, and
A Giedion, and
U Wiessmann, and
N Herschkowitz, and
C Meier, and
J Leroy
September 1966,
Medicina interna,
J S O'Brien, and
E Gugler, and
A Giedion, and
U Wiessmann, and
N Herschkowitz, and
C Meier, and
J Leroy
May 1988,
The British journal of ophthalmology,
J S O'Brien, and
E Gugler, and
A Giedion, and
U Wiessmann, and
N Herschkowitz, and
C Meier, and
J Leroy
April 1985,
Ophthalmic paediatrics and genetics,
