BIOMAT Database Logo BIOMAT Database Logo

Prenatal diagnosis of GM2-gangliosidosis B1 variant. 1995

M Lemos, and R Pinto, and G Ribeiro, and H Ribeiro, and L Lopes, and M C Sá Miranda
Instituto de Genetica Médica Jacinto Magalhaes, Porto, Portugal.

Prenatal diagnosis in a pregnancy at risk for a juvenile B1 variant of GM2-gangliosidosis was carried out. The biochemical study of the cultured amniocytes and the affected fetal brain is reported. The results obtained show that the sulphated artificial substrate can be used in the diagnosis of B1 variant, but not the neutral one. The accumulation of GM2-ganglioside in the fetal brain of the B1 juvenile form and an infantile form of GM2-gangliosidosis (0 variant) was compared.

UI MeSH Term Description Entries
D007962 Leukocytes White blood cells. These include granular leukocytes (BASOPHILS; EOSINOPHILS; and NEUTROPHILS) as well as non-granular leukocytes (LYMPHOCYTES and MONOCYTES). Blood Cells, White,Blood Corpuscles, White,White Blood Cells,White Blood Corpuscles,Blood Cell, White,Blood Corpuscle, White,Corpuscle, White Blood,Corpuscles, White Blood,Leukocyte,White Blood Cell,White Blood Corpuscle
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D011174 Portugal A country in southwestern Europe, bordering the North Atlantic Ocean, west of Spain. The capital is Lisbon. Madeira Island,Portuguese Republic
D011247 Pregnancy The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH. Gestation,Pregnancies
D011296 Prenatal Diagnosis Determination of the nature of a pathological condition or disease in the postimplantation EMBRYO; FETUS; or pregnant female before birth. Diagnosis, Prenatal,Fetal Diagnosis,Fetal Imaging,Fetal Screening,Intrauterine Diagnosis,Antenatal Diagnosis,Antenatal Screening,Diagnosis, Antenatal,Diagnosis, Intrauterine,Prenatal Screening,Antenatal Diagnoses,Antenatal Screenings,Diagnosis, Fetal,Fetal Diagnoses,Fetal Imagings,Fetal Screenings,Imaging, Fetal,Intrauterine Diagnoses,Prenatal Diagnoses,Prenatal Screenings,Screening, Antenatal,Screening, Fetal,Screening, Prenatal
D001921 Brain The part of CENTRAL NERVOUS SYSTEM that is contained within the skull (CRANIUM). Arising from the NEURAL TUBE, the embryonic brain is comprised of three major parts including PROSENCEPHALON (the forebrain); MESENCEPHALON (the midbrain); and RHOMBENCEPHALON (the hindbrain). The developed brain consists of CEREBRUM; CEREBELLUM; and other structures in the BRAIN STEM. Encephalon
D002478 Cells, Cultured Cells propagated in vitro in special media conducive to their growth. Cultured cells are used to study developmental, morphologic, metabolic, physiologic, and genetic processes, among others. Cultured Cells,Cell, Cultured,Cultured Cell
D005260 Female Females
D005625 Frontal Lobe The part of the cerebral hemisphere anterior to the central sulcus, and anterior and superior to the lateral sulcus. Brodmann Area 8,Brodmann's Area 8,Frontal Cortex,Frontal Eye Fields,Lobus Frontalis,Supplementary Eye Field,Area 8, Brodmann,Area 8, Brodmann's,Brodmanns Area 8,Cortex, Frontal,Eye Field, Frontal,Eye Field, Supplementary,Eye Fields, Frontal,Frontal Cortices,Frontal Eye Field,Frontal Lobes,Lobe, Frontal,Supplementary Eye Fields
D005678 G(M2) Ganglioside A glycosphingolipid that accumulates due to a deficiency of hexosaminidase A or B (BETA-N-ACETYLHEXOSAMINIDASES), or GM2 activator protein, resulting in GANGLIOSIDOSES, heredity metabolic disorders that include TAY-SACHS DISEASE and SANDHOFF DISEASE. GM2 Ganglioside,Tay-Sachs Disease Ganglioside,Ganglioside GM2,GM2, Ganglioside,Ganglioside, GM2,Ganglioside, Tay-Sachs Disease,Tay Sachs Disease Ganglioside

Related Publications

M Lemos, and R Pinto, and G Ribeiro, and H Ribeiro, and L Lopes, and M C Sá Miranda
Mutation in GM2-gangliosidosis B1 variant.
January 1988, Journal of neurochemistry,
M Lemos, and R Pinto, and G Ribeiro, and H Ribeiro, and L Lopes, and M C Sá Miranda
GM2 gangliosidosis variant B1 neuroradiological findings.
January 2003, Journal of neurology,
M Lemos, and R Pinto, and G Ribeiro, and H Ribeiro, and L Lopes, and M C Sá Miranda
Prenatal diagnosis of GM2 gangliosidosis with high residual hexosaminidase A activity (variant B1; pseudo AB variant).
November 1985, Pediatric research,
M Lemos, and R Pinto, and G Ribeiro, and H Ribeiro, and L Lopes, and M C Sá Miranda
Identification of GM2-gangliosidosis B1 variant carriers.
January 1993, Journal of inherited metabolic disease,
M Lemos, and R Pinto, and G Ribeiro, and H Ribeiro, and L Lopes, and M C Sá Miranda
Neuroradiological findings in GM2 gangliosidosis variant B1.
July 2011, Journal of pediatric neurosciences,
M Lemos, and R Pinto, and G Ribeiro, and H Ribeiro, and L Lopes, and M C Sá Miranda
Biochemical characterization of the GM2 gangliosidosis B1 variant.
June 2004, Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas,
M Lemos, and R Pinto, and G Ribeiro, and H Ribeiro, and L Lopes, and M C Sá Miranda
Diagnosis of AB variant, GM2 gangliosidosis.
January 1986, Annals of neurology,
M Lemos, and R Pinto, and G Ribeiro, and H Ribeiro, and L Lopes, and M C Sá Miranda
A case of the B1 variant of GM2-gangliosidosis.
January 1990, Journal of inherited metabolic disease,
M Lemos, and R Pinto, and G Ribeiro, and H Ribeiro, and L Lopes, and M C Sá Miranda
[Late infantile and juvenile form of GM2-gangliosidosis variant B1].
January 1999, Revista de neurologia,
M Lemos, and R Pinto, and G Ribeiro, and H Ribeiro, and L Lopes, and M C Sá Miranda
B1 variant of GM2 gangliosidosis in a 12-year-old patient.
January 1989, Pediatric research,
Copied contents to your clipboard!