-
1
-
-
0001477956
-
Progressive neurometabolic brain diseases
-
Brett EM (ed). New York, Churchill Livingstone
-
Brett EM, Lake BD: Progressive neurometabolic brain diseases; in Brett EM (ed): Pediatric Neurology, ed 3. New York, Churchill Livingstone, 1997, pp 143-200.
-
(1997)
Pediatric Neurology, Ed 3
, pp. 143-200
-
-
Brett, E.M.1
Lake, B.D.2
-
2
-
-
0025776299
-
Reproductive behavior and health in consanguineous marriages
-
Bittles AH, Mason WM, Greene J, Rao NA: Reproductive behavior and health in consanguineous marriages. Science 1991;252:789-794.
-
(1991)
Science
, vol.252
, pp. 789-794
-
-
Bittles, A.H.1
Mason, W.M.2
Greene, J.3
Rao, N.A.4
-
3
-
-
0034866964
-
Consanguinity and its relevance to clinical genetics
-
Bittles AH: Consanguinity and its relevance to clinical genetics. Clin Genet 2001;60:89-98.
-
(2001)
Clin Genet
, vol.60
, pp. 89-98
-
-
Bittles, A.H.1
-
4
-
-
0016475865
-
Metachromatic leukodystrophy: A case report
-
Alate PV: Metachromatic leukodystrophy: A case report. Indian Pediatr 1975;12:283-284.
-
(1975)
Indian Pediatr
, vol.12
, pp. 283-284
-
-
Alate, P.V.1
-
5
-
-
0020644486
-
GM2 gangliosidosis, type 2 (Sandhoff disease)
-
Vardakar AM, Mahale SD, Suchak RH, Patel ZM, Dhareshwar SS, Ambani LM: GM2 gan-gliosidosis, type 2 (Sandhoff disease). Indian Pediatr 1983;20:302-305.
-
(1983)
Indian Pediatr
, vol.20
, pp. 302-305
-
-
Vardakar, A.M.1
Mahale, S.D.2
Suchak, R.H.3
Patel, Z.M.4
Dhareshwar, S.S.5
Ambani, L.M.6
-
8
-
-
0014407682
-
Metachromatic leukodystrophy: Diagnosis with samples of venous blood
-
Percy AK, Brady RO: Metachromatic leukodystrophy: Diagnosis with samples of venous blood. Science 1968;161:594-595.
-
(1968)
Science
, vol.161
, pp. 594-595
-
-
Percy, A.K.1
Brady, R.O.2
-
10
-
-
0014930293
-
Tay-Sachs disease: Detection of heterozygotes and homozygotes by serum hexosaminidase activity
-
O'Brien JS, Okada S, Chen A, Fillerup DL: Tay-Sachs disease: Detection of heterozygotes and homozygotes by serum hexosaminidase activity. New Engl J Med 1970;289:15-20.
-
(1970)
New Engl J Med
, vol.289
, pp. 15-20
-
-
O'Brien, J.S.1
Okada, S.2
Chen, A.3
Fillerup, D.L.4
-
11
-
-
49749198315
-
The assay of arylsulfatases A and B in human urine
-
Baum H, Dodgson KS, Spencer B: The assay of arylsulfatases A and B in human urine. Clin Chim Acta 1959;4:453-455.
-
(1959)
Clin Chim Acta
, vol.4
, pp. 453-455
-
-
Baum, H.1
Dodgson, K.S.2
Spencer, B.3
-
13
-
-
0018884038
-
The diagnosis of type A and type B Niemann-Pick disease and detection of carriers using leukocytes and a chromogenic analogue of sphingomyelin
-
Gal AE, Brady RO, Barramger JA, et al: The diagnosis of type A and type B Niemann-Pick disease and detection of carriers using leukocytes and a chromogenic analogue of sphingomyelin. Clin Chim Acta 1980;104:129-132.
-
(1980)
Clin Chim Acta
, vol.104
, pp. 129-132
-
-
Gal, A.E.1
Brady, R.O.2
Barramger, J.A.3
-
14
-
-
0024361474
-
Dimethylmethylene blue-based spectrophotometry of glycosaminoglycans in untreated urine: A rapid screening procedure for mucopolysaccharidoses
-
De Jong JGN, Wevers RA, Laarakkers C, Poorthuis BJH: Dimethylmethylene blue-based spectrophotometry of glycosaminoglycans in untreated urine: A rapid screening procedure for mucopolysaccharidoses. Clin Chem 1989;35:1472-1477.
-
(1989)
Clin Chem
, vol.35
, pp. 1472-1477
-
-
De Jong, J.G.N.1
Wevers, R.A.2
Laarakkers, C.3
Poorthuis, B.J.H.4
-
15
-
-
0026483131
-
Measurement of sialic acid in serum and urine: Clinical applications and limitations
-
Waters PJ, Lewry E, Pennock CA: Measurement of sialic acid in serum and urine: Clinical applications and limitations. Ann Clin Biochem 1992;29:625-637.
-
(1992)
Ann Clin Biochem
, vol.29
, pp. 625-637
-
-
Waters, P.J.1
Lewry, E.2
Pennock, C.A.3
-
16
-
-
0002588296
-
Diseases of grey matter
-
Swaiman KF (ed). St. Louis, Mosby
-
Swick HM: Diseases of grey matter; in Swaiman KF (ed): Pediatric Neurology: Principles and Practice. St. Louis, Mosby, 1989, pp 777-794.
-
(1989)
Pediatric Neurology: Principles and Practice
, pp. 777-794
-
-
Swick, H.M.1
-
17
-
-
0016280131
-
Mental retardation in children. III. Tay-Sachs disease and infantile lipid storage disorders with visceral involvement
-
Joshua GE, Bhaktaviziam A, Bala VL: Mental retardation in children. III. Tay-Sachs disease and infantile lipid storage disorders with visceral involvement. Indian Pediatr 1974;11: 369-376.
-
(1974)
Indian Pediatr
, vol.11
, pp. 369-376
-
-
Joshua, G.E.1
Bhaktaviziam, A.2
Bala, V.L.3
-
18
-
-
0028991047
-
Enzyme studies in GM2 gangliosidosis, and their application in prenatal diagnosis
-
Kaur M, Verma IC: Enzyme studies in GM2 gangliosidosis, and their application in prenatal diagnosis. Indian J Pediatr 1995;62:485-489.
-
(1995)
Indian J Pediatr
, vol.62
, pp. 485-489
-
-
Kaur, M.1
Verma, I.C.2
-
19
-
-
0013923691
-
Amaurotic familial idiocy: Case reports of Tay-Sachs disease in two siblings and a review of twenty cases from the Indian literature
-
Maniar B, Arora VB: Amaurotic familial idiocy: Case reports of Tay-Sachs disease in two siblings and a review of twenty cases from the Indian literature. Indian Pediatr 1966;3:241-251.
-
(1966)
Indian Pediatr
, vol.3
, pp. 241-251
-
-
Maniar, B.1
Arora, V.B.2
-
21
-
-
0000497407
-
Metachromatic leukodystrophy
-
Scriver CR, Beaudet AL, Sly WS, Valle D (eds). New York, McGraw-Hill
-
Von Figura K, Gieselman V, Jaeken J: Metachromatic leukodystrophy; in Scriver CR, Beaudet AL, Sly WS, Valle D (eds): The Metabolic and Molecular Bases of Inherited Disease, ed 8. New York, McGraw-Hill, 2001, vol 3, pp 3695-3724.
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease, Ed 8
, vol.3
, pp. 3695-3724
-
-
Von Figura, K.1
Gieselman, V.2
Jaeken, J.3
-
22
-
-
0015128027
-
The incidence and genetics of metachromatic leukodystrophy in northern Sweden
-
Gustavson K, Hagberg B: The incidence and genetics of metachromatic leukodystrophy in northern Sweden. Acta Pediatr Scand 1971;60: 585.
-
(1971)
Acta Pediatr Scand
, vol.60
, pp. 585
-
-
Gustavson, K.1
Hagberg, B.2
-
23
-
-
0028459343
-
Late infantile metachromatic leukodystrophy in two siblings
-
Koul RL, Gururaj A, Chacho AP, Elbualy MS, Bhusnumath SR, Chand R: Late infantile metachromatic leukodystrophy in two siblings. Indian Pediatr 1994;31:694-698.
-
(1994)
Indian Pediatr
, vol.31
, pp. 694-698
-
-
Koul, R.L.1
Gururaj, A.2
Chacho, A.P.3
Elbualy, M.S.4
Bhusnumath, S.R.5
Chand, R.6
-
24
-
-
0028459418
-
Metachromatic leukodystrophy presenting with extrapyramidal disturbances
-
Pandit L, Kapadia R, Kini P, Rao S: Metachromatic leukodystrophy presenting with extrapyramidal disturbances. Indian Pediatr 1994;31: 690-694.
-
(1994)
Indian Pediatr
, vol.31
, pp. 690-694
-
-
Pandit, L.1
Kapadia, R.2
Kini, P.3
Rao, S.4
-
25
-
-
0016232096
-
Juvenile metachromatic leukodystrophy: A case report
-
Chopra JS, Banerjee AK, Sawhney BB: Juvenile metachromatic leukodystrophy: A case report. Neurol India 1974;22:184-187.
-
(1974)
Neurol India
, vol.22
, pp. 184-187
-
-
Chopra, J.S.1
Banerjee, A.K.2
Sawhney, B.B.3
-
26
-
-
0001578843
-
Multiple sulfatase deficiency and the nature of the sulfatase family
-
Scriver CR, Beaudet AL, Sly WS, Valle D (eds). New York, McGraw-Hill
-
Hopwood JJ, Ballabio A: Multiple sulfatase deficiency and the nature of the sulfatase family; in Scriver CR, Beaudet AL, Sly WS, Valle D (eds): The Metabolic and Molecular Bases of Inherited Disease, ed 8. New York, McGraw-Hill, 2001, vol 3, pp 3725-3732.
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease, Ed 8
, vol.3
, pp. 3725-3732
-
-
Hopwood, J.J.1
Ballabio, A.2
-
27
-
-
0002840898
-
Recent studies in the metachromatic and globoid body forms of diffuse sclerosis
-
Folch-Pi J, Bauer H (eds). Amsterdam, Elsevier
-
Austin JH: Recent studies in the metachromatic and globoid body forms of diffuse sclerosis; in Folch-Pi J, Bauer H (eds): Brain Lipids and Lipoproteins and Leukodystrophies. Amster-dam, Elsevier, 1963, p. 120.
-
(1963)
Brain Lipids and Lipoproteins and Leukodystrophies
, pp. 120
-
-
Austin, J.H.1
-
28
-
-
0021468007
-
Siblings with the Austin variant of metachromatic leukodystrophy multiple sulfatidosis
-
Barucha BA, Naik G, Savlivala AS, Joshi RM, Kumta NB: Siblings with the Austin variant of metachromatic leukodystrophy multiple sulfatidosis. Indian J Pediatr 1984;51:477-480.
-
(1984)
Indian J Pediatr
, vol.51
, pp. 477-480
-
-
Barucha, B.A.1
Naik, G.2
Savlivala, A.S.3
Joshi, R.M.4
Kumta, N.B.5
-
29
-
-
0000831299
-
Niemann-Pick disease types A and B: Acid sphingomyelinase deficiencies
-
Scriver CR, Beaudet AL, Sly WS, Valle D (eds). New York, McGraw-Hill
-
Schuchman EH, Desnick RJ: Niemann-Pick disease types A and B: Acid sphingomyelinase deficiencies; in Scriver CR, Beaudet AL, Sly WS, Valle D (eds): The Metabolic and Molecular Bases of Inherited Disease, ed 8. New York, McGraw-Hill, 2001, vol 3, pp 3589-3610.
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease, Ed 8
, vol.3
, pp. 3589-3610
-
-
Schuchman, E.H.1
Desnick, R.J.2
-
30
-
-
0034277466
-
Niemann-Pick disease. Ultrastructural features
-
Santhi P, Varma N, Marwaha RK: Niemann-Pick disease. Ultrastructural features. Indian Pediatr 2000;37:1017-1020.
-
(2000)
Indian Pediatr
, vol.37
, pp. 1017-1020
-
-
Santhi, P.1
Varma, N.2
Marwaha, R.K.3
-
31
-
-
0027623378
-
Sphingomyelinase assay in Niemann-Pick disease
-
Kaur M, Das GP, Verma IC: Sphingomyelinase assay in Niemann-Pick disease. Indian J Pediatr 1993;60:583-590.
-
(1993)
Indian J Pediatr
, vol.60
, pp. 583-590
-
-
Kaur, M.1
Das, G.P.2
Verma, I.C.3
-
32
-
-
0001437175
-
Disorders of glycoprotein degradation: β-Mannosidosis, fucosidosis and sialidosis
-
Scriver CR, Beaudet AL, Sly WS, Valle D (eds). New York, McGraw-Hill
-
Thomas GH: Disorders of glycoprotein degradation: β-Mannosidosis, fucosidosis and sialidosis; in Scriver CR, Beaudet AL, Sly WS, Valle D (eds): The Metabolic and Molecular Bases of Inherited Disease, ed 8. New York, McGraw-Hill, 2001, vol 3, pp 3507-3533.
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease, Ed 8
, vol.3
, pp. 3507-3533
-
-
Thomas, G.H.1
-
33
-
-
0026410539
-
Cherry-red spot myoclonus syndrome (type I sialidase)
-
Federico A, Ballistini S, Ciacci G, DeStefano N, Gatti R, Durand P, Guazzi GC: Cherry-red spot myoclonus syndrome (type I sialidase). Dev Neurosci 1991;13:320-326.
-
(1991)
Dev Neurosci
, vol.13
, pp. 320-326
-
-
Federico, A.1
Ballistini, S.2
Ciacci, G.3
DeStefano, N.4
Gatti, R.5
Durand, P.6
Guazzi, G.C.7
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