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Literature DB >> 28050081

Infantile Sandhoff Disease: Unusual presentation.

C G Muralidharan¹, R P S Tomar².

Abstract

Keywords: GM2 gangliosidosis; Hexosaminidases; Sandhoff disease

Year: 2016 PMID： 28050081 PMCID： PMC5192172 DOI： 10.1016/j.mjafi.2015.11.008

Source DB: PubMed Journal: Med J Armed Forces India ISSN： 0377-1237

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11 in total

1. Neuroimaging findings of four patients with Sandhoff disease.

Authors: A Yüksel; C Yalçinkaya; C Işlak; E Gündüz; M Seven
Journal: Pediatr Neurol Date: 1999-08 Impact factor: 3.372

2. Substrate deprivation therapy in juvenile Sandhoff disease.

Authors: S B Wortmann; D J Lefeber; G Dekomien; M A A P Willemsen; R A Wevers; E Morava
Journal: J Inherit Metab Dis Date: 2009-11-04 Impact factor: 4.982

3. MRI in a case of Sandhoff's disease.

Authors: K Hittmair; D Wimberger; G Bernert; R Mallek; E G Schindler
Journal: Neuroradiology Date: 1996-05 Impact factor: 2.804

4. GM2-gangliosidosis. Clinical and biochemical aspects of four cases.

Authors: P Praamstra; R A Wevers; F J Gabreëls; J J Rotteveel; W O Renier; R C Sengers; K J Lamers
Journal: Clin Neurol Neurosurg Date: 1990 Impact factor: 1.876

5. Increased density of the thalamus on CT scans in patients with GM2 gangliosidoses.

Authors: J Brismar; G Brismar; R Coates; G Gascon; P Ozand
Journal: AJNR Am J Neuroradiol Date: 1990 Jan-Feb Impact factor: 3.825

Review 6. The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported.

Authors: Gustavo H B Maegawa; Tracy Stockley; Michael Tropak; Brenda Banwell; Susan Blaser; Fernando Kok; Roberto Giugliani; Don Mahuran; Joe T R Clarke
Journal: Pediatrics Date: 2006-10-02 Impact factor: 7.124

7. Crystal structure of human beta-hexosaminidase B: understanding the molecular basis of Sandhoff and Tay-Sachs disease.

Authors: Brian L Mark; Don J Mahuran; Maia M Cherney; Dalian Zhao; Spencer Knapp; Michael N G James
Journal: J Mol Biol Date: 2003-04-11 Impact factor: 5.469

Infantile Sandhoff Disease: Unusual presentation.

1. Neuroimaging findings of four patients with Sandhoff disease.

2. Substrate deprivation therapy in juvenile Sandhoff disease.

3. MRI in a case of Sandhoff's disease.

4. GM2-gangliosidosis. Clinical and biochemical aspects of four cases.

5. Increased density of the thalamus on CT scans in patients with GM2 gangliosidoses.

Review 6. The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported.

7. Crystal structure of human beta-hexosaminidase B: understanding the molecular basis of Sandhoff and Tay-Sachs disease.

Review 8. Decreased T2 signal in the thalami may be a sign of lysosomal storage disease.

9. Miglustat therapy in juvenile Sandhoff disease.

10. Proton MRS of a child with Sandhoff disease reveals elevated brain hexosamine.

1. Infantile Sandhoff disease with ventricular septal defect: a case report.