g(m1)-ganglioside and Bone-Diseases

g(m1)-ganglioside has been researched along with Bone-Diseases* in 1 studies

Other Studies

1 other study(ies) available for g(m1)-ganglioside and Bone-Diseases

Article	Year
A case of GM1 gangliosidosis type I. Ophthalmic paediatrics and genetics, 1989, Volume: 10, Issue:1 A six-month-old female gypsy child, the daughter of second degree cousins, born after a full-term pregnancy and normal delivery, is described. There was generalized neonatal edema. Abnormalities included psychomotor retardation from birth and progressive appearance of facial dysmorphism, organ enlargement, axial hypotonia, hypertonia in limbs, myoclonic jerks, optic atrophy and bilateral cherry-red spots. The diagnosis of GM1 type 1 gangliosidosis was confirmed by biochemical, enzymatic and ultrastructural findings. Topics: Biopsy; Bone Diseases; Edema; Female; G(M1) Ganglioside; Gangliosidoses; Humans; Infant; Maxillofacial Development; Psychomotor Disorders; Skin	1989

Article

Year

Ophthalmic paediatrics and genetics, 1989, Volume: 10, Issue:1

A six-month-old female gypsy child, the daughter of second degree cousins, born after a full-term pregnancy and normal delivery, is described. There was generalized neonatal edema. Abnormalities included psychomotor retardation from birth and progressive appearance of facial dysmorphism, organ enlargement, axial hypotonia, hypertonia in limbs, myoclonic jerks, optic atrophy and bilateral cherry-red spots. The diagnosis of GM1 type 1 gangliosidosis was confirmed by biochemical, enzymatic and ultrastructural findings.

Topics: Biopsy; Bone Diseases; Edema; Female; G(M1) Ganglioside; Gangliosidoses; Humans; Infant; Maxillofacial Development; Psychomotor Disorders; Skin

1989