منابع مشابه
GM1 Gangliosidosis Test
The GM1 Gangliosidosis Test provides a high quality read-out of all exons of GLB1 gene. Our OS-SeqTM technology provides high coverage clinical grade sequencing and enables reliable diagnostics for patients with significantly lower costs and faster turnaround time (basic service TAT 21 days and express service TAT 7-10 days). The GM1 Gangliosidosis Test has undergone rigorous validation process...
متن کاملPeripheral blood findings in GM1 gangliosidosis.
T his peripheral blood is from a 3-month-old male patient with a prior diagnosis of GM1 gangliosidosis type I, who was admitted with fever and leukocytosis. There is a family history of 2 siblings with GM1 gangliosidosis. Cellulitis was diagnosed and successfully treated with antibiotics. This photomicrograph depicts the typical peripheral blood findings in GM1 gangliosidosis: a vacuolated lymp...
متن کاملGM1-generalized gangliosidosis variant with cardiomegaly.
A female infant with generalized GM1-gangliosidosis differing in several aspects from previously reported cases is described. Clinically she is the first case to have cardiomegaly, unilateral congenitial dislocation of the hip and normal facial appearance. She had a higher residual leucocyte 13-galactosidase activity towards two synthetic substrates, namely p-nitrophenyl-f3-D-galactoside (PNP-1...
متن کاملNeuroimaging findings in late infantile GM1 gangliosidosis.
Late infantile GM1 gangliosidosis is an extremely rare metabolic disorder with clinical features of seizure and progressive motor and mental retardation without facial dysmorphism or visceral organomegaly. We report the CT and MR imaging findings in one infant, which included abnormalities of the cerebral cortex, white matter, and deep nuclei.
متن کاملWhite matter changes in GM1 gangliosidosis.
BACKGROUND GM1 gangliosidosis is a disorder due to GLB1 gene mutation. CASE CHARACTERISTICS A 4-yr-old boy with neuroregression and optic atrophy with periventricular hyperintensity on magnetic resonance imaging. OUTCOME Beta galactosidase enzyme activity was low which was confirmed by GLB1 sequencing. MESSAGE We highlight the white matter changes in late infantile GM1 gangliosidosis.
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ژورنال
عنوان ژورنال: British Journal of Haematology
سال: 2006
ISSN: 0007-1048,1365-2141
DOI: 10.1111/j.1365-2141.2006.06287.x