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Journal of Inherited Metabolic Disease

Volumn 27, Issue 2, 2004, Pages 241-249

Juvenile Sandhoff disease - Nine new cases and a review of the literature

(6) Hendriksz, Chris J a Corry, P C b Wraith, J E a Besley, G T N a Cooper, A a Ferrie, C D c

a Willink Biochemical Genetics Unit (United Kingdom)

b BRADFORD TEACHING HOSPITALS NHS FOUNDATION TRUST (United Kingdom)

c LEEDS GENERAL INFIRMARY (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

BETA N ACETYLHEXOSAMINIDASE; HALOPERIDOL; MELATONIN; METHYLPHENIDATE; PROCYCLIDINE; THIORIDAZINE;

ADULT; ATAXIA; AUTONOMIC NEUROPATHY; CHERRY RED SPOT; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONSTIPATION; CORRELATION ANALYSIS; ENZYME ACTIVITY; ENZYME BLOOD LEVEL; ENZYME DEFICIENCY; FEMALE; GAIT DISORDER; HUMAN; HYPERREFLEXIA; INFANT; LYSOSOME STORAGE DISEASE; MALE; MEDICAL LITERATURE; MUSCLE ATROPHY; PAKISTAN; RETROSPECTIVE STUDY; REVIEW; SANDHOFF DISEASE; SEIZURE; SPEECH DISORDER; URINE INCONTINENCE;

BETA-N-ACETYLHEXOSAMINIDASE; CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; MALE; PAKISTAN; PEDIGREE; SANDHOFF DISEASE;

EID: 2942590751 PISSN: 01418955 EISSN: None Source Type: Journal
DOI: 10.1023/B:BOLI.0000028777.38551.5a Document Type: Review

Times cited : (34)

References (13)

1
- 0022550108
- Late-onset hexosaminidase A and hexosaminidase A and B deficiency: Family study and review
- Adams C, Green S (1986) Late-onset hexosaminidase A and hexosaminidase A and B deficiency: family study and review. Dev Med Child Neurol 28(2): 236-243.
- (1986) Dev. Med. Child Neurol. , vol.28 , Issue.2 , pp. 236-243
- Adams, C.¹ Green, S.²

2
- 0031656238
- 2-gangliosidosis type Sandhoff
- 2-gangliosidosis type Sandhoff. Eur J Pediatr 157(10): 866-867.
- (1998) Eur. J. Pediatr. , vol.157 , Issue.10 , pp. 866-867
- Beck, M.¹ Sieber, N.² Goebel, H.H.³

3
- 0034904971
- 2 gangliosidosis presenting as burning dysesthesias
- 2 gangliosidosis presenting as burning dysesthesias. Pediatr Neurol 25(1): 59-61.
- (2001) Pediatr. Neurol. , vol.25 , Issue.1 , pp. 59-61
- Chow, G.C.¹ Clarke, J.T.² Banwell, B.L.³

4
- 84984100284
- Chronic hexosaminidase A and B deficiency
- Goldie WD, Holtzman D, Suzuki K (1977) Chronic hexosaminidase A and B deficiency. Ann Neurol 2: 156-158.
- (1977) Ann. Neurol. , vol.2 , pp. 156-158
- Goldie, W.D.¹ Holtzman, D.² Suzuki, K.³

5
- 0347286582
- Neurodegenerative disorders of childhood
- Behrman RE, Kliegman RM, Jenson HB, eds. Philadelphia: WB Saunders
- Haslem RHA (2000) Neurodegenerative disorders of childhood. In: Behrman RE, Kliegman RM, Jenson HB, eds. Nelson Textbook of Pediatrics. Philadelphia: WB Saunders, 1848-1851.
- (2000) Nelson Textbook of Pediatrics , pp. 1848-1851
- Haslem, R.H.A.¹

6
- 0017625821
- Progressive cerebellar ataxia, spasticity, psychomotor retardation, and hexosaminidase deficiency in a 10-year-old child: Juvenile Sandhoff disease
- MacLeod PM, Wood S, Jan JE, Applegarth DA, Dolman CL (1977) Progressive cerebellar ataxia, spasticity, psychomotor retardation, and hexosaminidase deficiency in a 10-year-old child: juvenile Sandhoff disease. Neurology 27(6): 571-573.
- (1977) Neurology , vol.27 , Issue.6 , pp. 571-573
- MacLeod, P.M.¹ Wood, S.² Jan, J.E.³ Applegarth, D.A.⁴ Dolman, C.L.⁵

7
- 0025126396
- A case of juvenile Sandhoff disease
- Mitsuo K, Koutake N, Kobayashi T, Iwashita H, Goto I (1990) [A case of juvenile Sandhoff disease]. Rinsho Shinkeigaku 30(2): 179-183.
- (1990) Rinsho Shinkeigaku , vol.30 , Issue.2 , pp. 179-183
- Mitsuo, K.¹ Koutake, N.² Kobayashi, T.³ Iwashita, H.⁴ Goto, I.⁵

8
- 0024461668
- Juvenile Sandhoff disease with local panatrophy-a case report
- Nakano R, Wakamatsu N, Tsuji S, Matsumura G, Miyatake T (1989) [Juvenile Sandhoff disease with local panatrophy-a case report]. Rinsho Shinkeigaku 29(8): 1032-1038.
- (1989) Rinsho Shinkeigaku , vol.29 , Issue.8 , pp. 1032-1038
- Nakano, R.¹ Wakamatsu, N.² Tsuji, S.³ Matsumura, G.⁴ Miyatake, T.⁵

9
- 0035109154
- 2-gangliosidosis
- 2-gangliosidosis. J Inherit Metab Dis 24(1): 65-71.
- (2001) J. Inherit. Metab. Dis. , vol.24 , Issue.1 , pp. 65-71
- Salman, M.S.¹ Clarke, J.T.² Midroni, G.³ Waxman, M.B.⁴

10
- 0024433922
- 2 gangliosidosis
- 2 gangliosidosis. Br J Psychiatry 155: 410-413.
- (1989) Br. J. Psychiatry , vol.155 , pp. 410-413
- Streifler, J.¹ Golomb, M.² Gadoth, N.³

11
- 0035229291
- Juvenile Sandhoff disease
- Unnikrishnan AG, Danda S, Seshadri MS (2001) Juvenile Sandhoff disease. Indian Pediatr 38(1): 89-92.
- (2001) Indian Pediatr. , vol.38 , Issue.1 , pp. 89-92
- Unnikrishnan, A.G.¹ Danda, S.² Seshadri, M.S.³

12
- 2942542364
- UWCM (University of Wales College of Medicine, Institute of Medical Genetics,)
- UWCM (University of Wales College of Medicine, Institute of Medical Genetics, 2003) http://archive.uwcm.ac.uk/uwcm/mg/search/119308.html.
- (2003)

13
- 0018155240
- Juvenile Sandoff disease: Report of an additional case with family studies
- Wood S, Applegarth DA (1978) Juvenile Sandoff disease: report of an additional case with family studies. Monogr Hum Genet 9: 182-185.
- (1978) Monogr. Hum. Genet. , vol.9 , pp. 182-185
- Wood, S.¹ Applegarth, D.A.²

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.