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Results of search for 'au:"Chabás, A"', page 1 of 4
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Authors
Ausset, P
Balcells, S
Barone, R
Briones, P
Burguera, J M
Chabas, A
Chabás, A
Coll, M J
Cormand, B
Díaz, A
Ferrer, I
Gonzàlez-Duarte, R
Gort, L
Grinberg, D
Guardiola, A
Jaeken, J
Lombardo, T
Montfort, M
Pastores, G M
Vilageliu, L
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Child
Child, Preschool
DNA Mutational Analysis
Female
Gaucher Disease
Glucosylceramidase
Humans
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Mutation
Polymorphism, Single-Stranded Conformational
Spain
analysis
chemistry
deficiency
diagnosis
enzymology
genetics
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English
g d
Spanish
Your search returned 73 results.
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1.
[Neuroepidemiology of metabolism inborn errors: diseases of lysosomal origin].
[electronic resource]
by
Chabás, A
Producer:
19890626
In:
Anales espanoles de pediatria
vol. 29 Suppl 33
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2.
Effect of carbamyl phosphate on stability of some enzymes of the urea cycle; high sensitivity of glutamate dehydrogenase.
[electronic resource]
by
Chabas, A
Grisolia, S
Publication details:
FEBS letters
Mar 1972
In:
FEBS letters
vol. 21
Online resources:
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3.
beta-Glucuronidase deficiency: identification of an affected fetus with simultaneous sampling of chorionic villus and amniotic fluid.
[electronic resource]
by
Chabás, A
Guardiola, A
Producer:
19931014
In:
Prenatal diagnosis
vol. 13
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4.
On the mechanism of carbamoylphosphate synthetase.
[electronic resource]
by
Chabas, A
Grisolia, S
Silverstein, R
Producer:
19730103
In:
European journal of biochemistry
vol. 29
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5.
Prenatal human brain development. II. Studies on malate dehydrogenase.
[electronic resource]
by
Chabás, A
Briones, P
Sabater, J
Producer:
19801120
In:
Developmental neuroscience
vol. 3
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6.
Prenatal development of isocitrate- and glucose-6-phosphate dehydrogenases in the human brain.
[electronic resource]
by
Chabás, A
Briones, P
Sabater, J
Producer:
19791220
In:
Brain research
vol. 176
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7.
Exclusion of cyanate as intermediate in ornithine transcarbamoylase action.
[electronic resource]
by
Carreras, J
Chabas, A
Grisolia, S
Producer:
19720531
In:
Biochimica et biophysica acta
vol. 250
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8.
A new infantile case of alpha-N-acetylgalactosaminidase deficiency. Cardiomyopathy as a presenting symptom.
[electronic resource]
by
Chabás, A
Duque, J
Gort, L
Producer:
20070313
In:
Journal of inherited metabolic disease
vol. 30
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9.
[Type C Niemann-Pick disease].
[electronic resource]
by
Piñán, M A
Prats, J
Chabas, A
Producer:
19920630
In:
Sangre
vol. 36
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10.
An activator protein of oligosaccharide sialidase.
[electronic resource]
by
Chabás, A
Guardiola, A
Burguera, J M
Producer:
19880308
In:
Biochemistry international
vol. 15
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11.
Allelic heterogeneity in Spanish patients with Sanfilippo disease type B. Identification of eight new mutations.
[electronic resource]
by
Coll, M J
Antón, C
Chabás, A
Producer:
20010621
In:
Journal of inherited metabolic disease
vol. 24
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12.
Analysis of five mutations in 20 mucopolysaccharidois type 1 patients: high prevalence of the W402X mutation. Mutations in brief no. 121. Online.
[electronic resource]
by
Gort, L
Chabás, A
Coll, M J
Producer:
19990419
In:
Human mutation
vol. 11
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13.
Hunter disease in the Spanish population: molecular analysis in 31 families.
[electronic resource]
by
Gort, L
Chabás, A
Coll, M J
Producer:
19981207
In:
Journal of inherited metabolic disease
vol. 21
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14.
A new polymorphism in the iduronate-2-sulphatase gene. Implications for the diagnosis of Hunter disease.
[electronic resource]
by
Gort, L
Chabás, A
Coll, M J
Producer:
19991221
In:
Journal of inherited metabolic disease
vol. 22
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15.
Low beta-glucuronidase activity in a healthy member of a family with mucopolysaccharidosis VII.
[electronic resource]
by
Chabas, A
Giros, M L
Guardiola, A
Producer:
19920312
In:
Journal of inherited metabolic disease
vol. 14
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16.
Identification of 12 novel mutations and two new polymorphisms in the arylsulfatase A gene: haplotype and genotype-phenotype correlation studies in Spanish metachromatic leukodystrophy patients.
[electronic resource]
by
Gort, L
Coll, M J
Chabás, A
Producer:
19991012
In:
Human mutation
vol. 14
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17.
Metachromatic leukodystrophy: a novel mutation (c237delC) and extension of the haplotype associated with the P426L mutation.
[electronic resource]
by
Gort, L
Coll, M J
Chabás, A
Producer:
20001027
In:
Human mutation
vol. 16
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18.
Mutations in the iduronate-2-sulfatase gene in 12 Spanish patients with Hunter disease.
[electronic resource]
by
Gort, L
Coll, M J
Chabás, A
Producer:
19990630
In:
Human mutation
vol. Suppl 1
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19.
Imaging features of type-B Niemann-Pick disease.
[electronic resource]
by
Muntaner, L
Galmés, A
Chabás, A
Herrera, M
Producer:
19970523
In:
European radiology
vol. 7
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20.
Activator protein deficient Gaucher's disease. A second patient with the newly identified lipid storage disorder.
[electronic resource]
by
Christomanou, H
Chabás, A
Pámpols, T
Guardiola, A
Producer:
19900315
In:
Klinische Wochenschrift
vol. 67
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