Spinocerebellar degeneration: hexosaminidase A and... [Neurology. 1979] - PubMed

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Lysosomal enzymes in ataxia: discovery of two new cases of late onset hexosaminidase A and B deficiency (adult Sandhoff disease) in French Canadians. [Can J Neurol Sci. 1984]
Lysosomal enzymes in ataxia: discovery of two new cases of late onset hexosaminidase A and B deficiency (adult Sandhoff disease) in French Canadians.
Barbeau A, Plasse L, Cloutier T, Paris S, Roy M. Can J Neurol Sci. 1984 Nov; 11(4 Suppl):601-6.
[Sandhoff's disease (GM2 gangliosidosis, type II). Presentation of a case with a clinical and biochemical study. Carrier detection]. [An Esp Pediatr. 1984]
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Review [Adult form of GM2-gangliosidosis: a man and 2 sisters with hexosaminidase-A and -B deficiency (Sandhoff disease) and literature review]. [Schweiz Med Wochenschr. 1996]
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Hexosaminidase A deficiency in adults. [Am J Med Genet. 1986]
Hexosaminidase A deficiency in adults.
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Review Genetic heterogeneity of the hexosaminidase deficiency diseases. [Res Publ Assoc Res Nerv Ment D...]
Review Genetic heterogeneity of the hexosaminidase deficiency diseases.
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Cited by 4 PubMed Central articles

Early and severe sensory loss in three adult siblings with hexosaminidase A and B deficiency (Sandhoff disease). [J Neurol Neurosurg Psychiatry....]
Early and severe sensory loss in three adult siblings with hexosaminidase A and B deficiency (Sandhoff disease).
Schnorf H, Gitzelmann R, Bosshard NU, Spycher M, Waespe W. J Neurol Neurosurg Psychiatry. 1995 Nov; 59(5):520-3.
Juvenile GM2 gangliosidosis (AMB variant): inability to activate hexosaminidase A by activator protein. [Am J Hum Genet. 1983]
Juvenile GM2 gangliosidosis (AMB variant): inability to activate hexosaminidase A by activator protein.
Inui K, Grebner EE, Jackson LG, Wenger DA. Am J Hum Genet. 1983 Jul; 35(4):551-64.
Sandhoff disease mimicking adult-onset bulbospinal neuronopathy. [J Neurol Neurosurg Psychiatry....]
Sandhoff disease mimicking adult-onset bulbospinal neuronopathy.
Thomas PK, Young E, King RH. J Neurol Neurosurg Psychiatry. 1989 Sep; 52(9):1103-6.

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Spinocerebellar degeneration: hexosaminidase A and B deficiency in two adult sis...
Spinocerebellar degeneration: hexosaminidase A and B deficiency in two adult sisters.
Neurology. 1979 Mar ;29(3):380-4.

PubMed
Hyperlysinemia with saccharopinuria due to combined lysine-ketoglutarate reducta...
Hyperlysinemia with saccharopinuria due to combined lysine-ketoglutarate reductase and saccharopine dehydrogenase deficiencies presenting as cystinuria.
J Pediatr. 1979 Aug ;95(2):234-8.

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Compression fixation and primary bone healing.
Compression fixation and primary bone healing.
Surg Forum. 1968 ;19:453-6.

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A study of possible heterogeneity in Duchenne muscular dystrophy.
A study of possible heterogeneity in Duchenne muscular dystrophy.
Clin Genet. 1979 May ;15(5):444-9.

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Personal validation and the person.
Psychol Rep. 1968 Dec ;23(3):1214.

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Spinocerebellar degeneration: hexosaminidase A and B deficiency in two adult sisters.

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