Results 81 to 90 of about 7,809 (216)

Expression and characterization of 14 GLB1 mutant alleles found in GM1-gangliosidosis and Morquio B patients

Journal of Lipid Research, 2007
GM1-gangliosidosis and Morquio B disease are lysosomal storage disorders caused by β-galactosidase deficiency attributable to mutations in the GLB1 gene.
Raül Santamaria, Amparo Chabás, John W. Callahan, Daniel Grinberg, Lluïsa Vilageliu   +4 more
doaj   +1 more source

Prenatal screening and counseling for genetic disorders [PDF]

, 2013
Introduction: The carriers of the same autosomal recessive disorder are usually unaware of onset of the genetic diseases in the children even if screenings are available for many of these disorders. In this paper, we report the experience of the Prenatal
CASTALDO, GIUSEPPE, MARTINELLI, PASQUALE, MARUOTTI, GIUSEPPE MARIA, SARNO, LAURA, SIMIOLI, STEFANIA   +4 more
core   +1 more source

A note on Roma mental health and the statement by Géza Jeszenszky [PDF]

, 2013
The following note provides an overview of the debate centred on a 2005 course textbook which was written by Géza Jeszenszky for courses he taught at the Corvinus University of Budapest.
Nagy, Beáta, Rostas, Iulius, Ryder, Andrew   +2 more
core  

PAS-positive lymphocyte vacuoles can be used as diagnostic screening test for Pompe disease [PDF]

, 2010
Screening of blood films for the presence of periodic acid-Schiff (PAS)-positive lymphocyte vacuoles is sometimes used to support the diagnosis of Pompe disease, but the actual diagnostic value is still unknown.
Marloes L. C. Hagemans, Rolinda L. Stigter, Carine I. van Capelle, Nadine A. M. E. van der Beek, Leon P. F. Winkel, Laura van Vliet, Wim C. J. Hop, Arnold J. J. Reuser, Auke Beishuizen, Ans T. van der Ploeg, G Anderson, JB Bain, T Barsy de, FGJ Hayhoe, K Ikeda, BJ Maron, WJ Mitus, F Muntoni, T Okumiya, V Straub, V Straub, PS Trend, AT Ploeg van der, OP Diggelen van, DB Bassewitz von, B Winchester, LP Winkel, LP Winkel   +27 more
core   +1 more source

Diagnosis of GM-1 gangliodosis in Cuba

Medisur, 2007
Background: GM-1 gangliosidosis is included in the group of lysosomal diseases and is characterized by a deficiency of the enzyme b-galactosidase, which as a consequence produces accumulation of GM1 ganglioside in nervous cells and galactosil ...
Caridad Menéndez Saínz, Sergio González García, Claudina Zaldívar Muñoz, Alina González-Quevedo Monteagudo   +3 more
doaj   +2 more sources

Brain ceramide hexosides in Tay-Sachs disease and generalized gangliosidosis (GM1-gangliosidosis)

Journal of Lipid Research, 1967
The carbohydrate composition was determined for ceramide hexosides isolated from brains of patients with Tay-Sachs disease and generalized gangliosidosis (hereby named GM1-gangliosidosis).Gray matter of patients with each disease showed a characteristic ...
Kunihiko Suzuki, Gloria C. Chen
doaj   +1 more source

Gangliosidosis G M1 : a propósito de un caso clínico

Revista Universitas Medica, 2015
La gangliosidosis G M1 es una enfermedad de depósito lisosomal en la cual se acumula gangliósido-G M1 y otros compuestos galactoconjugados. La enfermedad es secundaria a la deficiencia de β -galactosidasa, con una afectación multiorgánica, en que ...
Juan Pablo Londoño C., Eugenia Espinosa García, Olga Yaneth Echeverri Peña, Yudy Andrea Ardila, Luis Alejandro Barrera A.   +4 more
doaj  

Movement Disorders Presenting in Childhood. [PDF]

, 2016
PURPOSE OF REVIEW: This article provides an overview of movement disorders that present in childhood. Key clinical features are discussed, and a brief guide to management strategies is provided.
Dale, RC, Kurian, MA
core   +1 more source

Atypical juvenile presentation of GM2 gangliosidosis AB in a patient compound-heterozygote for c.259G>T and c.164C>T mutations in the GM2A gene

Molecular Genetics and Metabolism Reports, 2017
GM2-gangliosidosis, AB variant is an extremely rare autosomal recessive inherited disorder caused by mutations in the GM2A gene that encodes GM2 ganglioside activator protein (GM2AP).
Carla Martins, Catherine Brunel-Guitton, Anne Lortie, France Gauvin, Carlos R. Morales, Grant A. Mitchell, Alexey V. Pshezhetsky   +6 more
doaj   +1 more source

GM1 gangliosidosis: Case report

Medicinski pregled, 2010
Introduction. Gangliosidoses occur due to inhereted deficiency of human ? - galaktosidase,resulting in the accumulation of glicophyngolipides within the lisosomes. Clinical manifestations of lysosomal storage disorders are remarkably heterogeneous, they can appear at any age and each of them can vary from mild to severe conditions.
Slobodan Obradovic, Olivera Laban, Zoran Igrutinovic, Biljana Vuletic, Ana Vujic, Jasmina Djindjic   +5 more
openaire   +3 more sources