共 20 条
[1]
Barbier C, 2002, ACTA PAEDIATR, V91, P1399
[2]
Beutler E., 2001, METABOLIC MOL BASES, V3, P3635
[3]
Variant Gaucher disease characterized by dysmorphic features, absence of cardiovascular involvement, laryngospasm, and compound heterozygosity for a novel mutation (D409H/C16S)
[J].
AMERICAN JOURNAL OF MEDICAL GENETICS,
2002, 109 (04)
:328-331
[5]
CHOULOT JJ, 1981, ARCH FR PEDIATR, V38, P267
[7]
CONGENITAL ICHTHYOSIS PRECEDING NEUROLOGIC SYMPTOMS IN 2 SIBS WITH TYPE-2 GAUCHER-DISEASE
[J].
AMERICAN JOURNAL OF MEDICAL GENETICS,
1995, 59 (03)
:356-358
[8]
Germain DP, 2007, REV MED INTERNE, V28, pS193