g(m1)-ganglioside and Edema

g(m1)-ganglioside has been researched along with Edema* in 2 studies

Other Studies

2 other study(ies) available for g(m1)-ganglioside and Edema

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
Landing disease, GM1 generalized gangliosidosis, and malabsorption syndrome. Pediatric pathology, 1989, Volume: 9, Issue:4 A case of beta galactosidase deficiency is described in a 20-month-old boy. The child was hospitalized at 4 months of age for malabsorption syndrome. Biopsies of the small intestine and liver were performed and electron microscopy of the liver specimens strongly suggested a gangliosidosis. The cytoplasm of macrophages, Kupffer cells and hepatocytes contained membrane-bound lysosomes with a granular, fibrillar appearance and tubular structures interpreted as ganglioside deposits. Enzymatic deficiency was confirmed by biochemical investigation of leukocytes from both the patient and members of his immediate family. Although visceromegaly is typical of Landing disease, symptoms of malabsorption and hypertension have not been reported in its course. Topics: Edema; G(M1) Ganglioside; Galactosidases; Gangliosidoses; Humans; Hypoproteinemia; Infant; Intestine, Small; Liver; Malabsorption Syndromes; Male; Microscopy, Electron; Mucous Membrane; Radiography	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

Landing disease, GM1 generalized gangliosidosis, and malabsorption syndrome.

Pediatric pathology, 1989, Volume: 9, Issue:4

A case of beta galactosidase deficiency is described in a 20-month-old boy. The child was hospitalized at 4 months of age for malabsorption syndrome. Biopsies of the small intestine and liver were performed and electron microscopy of the liver specimens strongly suggested a gangliosidosis. The cytoplasm of macrophages, Kupffer cells and hepatocytes contained membrane-bound lysosomes with a granular, fibrillar appearance and tubular structures interpreted as ganglioside deposits. Enzymatic deficiency was confirmed by biochemical investigation of leukocytes from both the patient and members of his immediate family. Although visceromegaly is typical of Landing disease, symptoms of malabsorption and hypertension have not been reported in its course.

Topics: Edema; G(M1) Ganglioside; Galactosidases; Gangliosidoses; Humans; Hypoproteinemia; Infant; Intestine, Small; Liver; Malabsorption Syndromes; Male; Microscopy, Electron; Mucous Membrane; Radiography

1989