Skip to main content
مکتبة رقمیه للعلوم الطبيه
Your cart is empty.
Cart
Lists
Your lists
Log in to create your own lists
Log in to your account
Your cookies
Search history
Search the catalog by:
Library catalog
Title
Author
Subject
ISBN
ISSN
Series
Call number
Search the catalog by keyword
Advanced search
Authority search
Tag cloud
Library
Log in to your account
Home
Advanced search
Results of search for 'au:"Sá Miranda, M"', page 1 of 3
Refine your search
Availability
Limit to records with available items
Authors
Abdelhak, S
Aerts, J
Aerts, J M
Amaral, O
Amaral, Olga
Barranger, J A
Beck, Michael
Ben Rhouma, F
Lacerda, L
Lemos, M
Maia, M
Marcão, A
Marcão, Ana
Pinto, E
Pinto, R
Pinto, R A
Ribeiro, M G
Sa Miranda, M C
Schram, A W
Sá Miranda, M C
Show more
Show less
Topics
Adolescent
Adult
Child
Child, Preschool
DNA Mutational Analysis
Female
Fibroblasts
Gaucher Disease
Glucosylceramidase
Humans
Male
Middle Aged
Mutation
Phenotype
Portugal
beta-N-Acetylhexosaminidases
enzymology
genetics
metabolism
pharmacology
Show more
Show less
Languages
English
French
Portuguese
Your search returned 52 results.
Sort
1
2
3
Next
Last
Sort by:
Relevance
Popularity (most to least)
Popularity (least to most)
Author (A-Z)
Author (Z-A)
Call number (0-9 to A-Z)
Call number (Z-A to 9-0)
Publication/Copyright date: Newest to oldest
Publication/Copyright date: Oldest to newest
Acquisition date: Newest to oldest
Acquisition date: Oldest to newest
Title (A-Z)
Title (Z-A)
Unhighlight
Highlight
Select all
Clear all
Select titles to:
Add to cart
Add to list
New list
Place hold
Results
1.
Adult-onset neuronopathic form of Gaucher's disease: a case report.
[electronic resource]
by
Guimarães, J
Amaral, O
Sá Miranda, M C
Producer:
20030729
In:
Parkinsonism & related disorders
vol. 9
Online resources:
Available from publisher's website
Availability:
No items available.
Save to lists
Add to cart
(remove)
2.
Allelic frequency determination of the 24-bp chitotriosidase duplication in the Portuguese population by real-time PCR.
[electronic resource]
by
Rodrigues, M R
Sá Miranda, M C
Amaral, O
Producer:
20050406
In:
Blood cells, molecules & diseases
vol. 33
Online resources:
Available from publisher's website
Availability:
No items available.
Save to lists
Add to cart
(remove)
3.
Identification of GM2-gangliosidosis B1 variant carriers.
[electronic resource]
by
Ribeiro, M G
Pinto, R
Oliveira, P
Sá Miranda, M C
Producer:
19940411
In:
Journal of inherited metabolic disease
vol. 16
Online resources:
Available from publisher's website
Availability:
No items available.
Save to lists
Add to cart
(remove)
4.
Oligomerization capacity of two arylsulfatase A mutants: C300F and P425T.
[electronic resource]
by
Marcão, Ana
Azevedo, Jorge E
Gieselmann, Volkmar
Sá Miranda, M C
Producer:
20030731
In:
Biochemical and biophysical research communications
vol. 306
Online resources:
Available from publisher's website
Availability:
No items available.
Save to lists
Add to cart
(remove)
5.
Sodium taurocholate effect on beta-glucosidase activity: a new approach for identification of Gaucher disease using the synthetic substrate and leucocytes.
[electronic resource]
by
Magalhães, J
Sá Miranda, M C
Pinto, R
Lemos, M
Poenaru, L
Producer:
19841207
In:
Clinica chimica acta; international journal of clinical chemistry
vol. 141
Online resources:
Available from publisher's website
Availability:
No items available.
Save to lists
Add to cart
(remove)
6.
Juvenile GM2 gangliosidosis variant B1: clinical and biochemical study in seven patients.
[electronic resource]
by
Maia, M
Alves, D
Ribeiro, G
Pinto, R
Sa Miranda, M C
Producer:
19900426
In:
Neuropediatrics
vol. 21
Online resources:
Available from publisher's website
Availability:
No items available.
Save to lists
Add to cart
(remove)
7.
Age dependency of serum acid phosphatase in controls and Gaucher patients.
[electronic resource]
by
Magalhães, J
Pinto, R
Lemos, M
Sá Miranda, M C
Poenaru, L
Producer:
19850109
In:
Enzyme
vol. 32
Online resources:
Available from publisher's website
Availability:
No items available.
Save to lists
Add to cart
(remove)
8.
The N370S mutation in the glucocerebrosidase gene of Portuguese type 1 Gaucher patients: linkage to the PvuII polymorphism.
[electronic resource]
by
Lacerda, L
Amaral, O
Pinto, R
Aerts, J
Sá Miranda, M C
Producer:
19940908
In:
Journal of inherited metabolic disease
vol. 17
Online resources:
Available from publisher's website
Availability:
No items available.
Save to lists
Add to cart
(remove)
9.
Type 1 Gaucher disease: identification of N396T and prevalence of glucocerebrosidase mutations in the Portuguese.
[electronic resource]
by
Amaral, O
Pinto, E
Fortuna, M
Lacerda, L
Sá Miranda, M C
Producer:
19970123
In:
Human mutation
vol. 8
Online resources:
Available from publisher's website
Availability:
No items available.
Save to lists
Add to cart
(remove)
10.
Two novel (1334delC and 1363G to A, G455R) mutations in exon 12 of the beta-hexosaminidase alpha-chain gene in two Portuguese patients.
[electronic resource]
by
Gil Ribeiro, M
Pinto, R A
Suzuki, K
Sá Miranda, M C
Producer:
19971209
In:
Human mutation
vol. 10
Online resources:
Available from publisher's website
Availability:
No items available.
Save to lists
Add to cart
(remove)
11.
Biochemical characterization of two (C300F, P425T) arylsulfatase a missense mutations.
[electronic resource]
by
Marcão, Ana
Simonis, Heidi
Schestag, Frank
Sá Miranda, M Clara
Gieselmann, Volkmar
Producer:
20030430
In:
American journal of medical genetics. Part A
vol. 116A
Online resources:
Available from publisher's website
Availability:
No items available.
Save to lists
Add to cart
(remove)
12.
Identification of Gaucher disease carriers: glucocerebrosidase antigen and DNA analysis.
[electronic resource]
by
Lacerda, L
Amaral, O
Pinto, R
Aerts, J
Sá Miranda, M C
Producer:
19940125
In:
Biochemical medicine and metabolic biology
vol. 50
Online resources:
Available from publisher's website
Availability:
No items available.
Save to lists
Add to cart
(remove)
13.
Metachromatic leucodystrophy in Portugal-finding of four new molecular lesions: C300F, P425T, g.1190-1191insC, and g.2408delC. Mutations in brief no. 232. Online.
[electronic resource]
by
Marcão, A
Amaral, O
Pinto, E
Pinto, R
Sá Miranda, M C
Producer:
19990610
In:
Human mutation
vol. 13
Online resources:
Available from publisher's website
Availability:
No items available.
Save to lists
Add to cart
(remove)
14.
Molecular characterisation of type 1 Gaucher disease families and patients: intrafamilial heterogeneity at the clinical level.
[electronic resource]
by
Amaral, O
Fortuna, A M
Lacerda, L
Pinto, R
Sa Miranda, M C
Producer:
19940922
In:
Journal of medical genetics
vol. 31
Online resources:
Available from publisher's website
Availability:
No items available.
Save to lists
Add to cart
(remove)
15.
Gaucher disease: expression and characterization of mild and severe acid beta-glucosidase mutations in Portuguese type 1 patients.
[electronic resource]
by
Amaral, O
Marcão, A
Sá Miranda, M
Desnick, R J
Grace, M E
Producer:
20000512
In:
European journal of human genetics : EJHG
vol. 8
Online resources:
Available from publisher's website
Availability:
No items available.
Save to lists
Add to cart
(remove)
16.
Prenatal diagnosis of GM2-gangliosidosis B1 variant.
[electronic resource]
by
Lemos, M
Pinto, R
Ribeiro, G
Ribeiro, H
Lopes, L
Sá Miranda, M C
Producer:
19951005
In:
Prenatal diagnosis
vol. 15
Online resources:
Available from publisher's website
Availability:
No items available.
Save to lists
Add to cart
(remove)
17.
Gaucher disease: N370S glucocerebrosidase gene frequency in the Portuguese population.
[electronic resource]
by
Lacerda, L
Amaral, O
Pinto, R
Oliveira, P
Aerts, J
Sá Miranda, M C
Producer:
19941027
In:
Clinical genetics
vol. 45
Online resources:
Available from publisher's website
Availability:
No items available.
Save to lists
Add to cart
(remove)
18.
Homozygosity for two mild glucocerebrosidase mutations of probable Iberian origin.
[electronic resource]
by
Amaral, O
Lacerda, L
Marcão, A
Pinto, E
Tamagnini, G
Sá Miranda, M C
Producer:
19990930
In:
Clinical genetics
vol. 56
Online resources:
Available from publisher's website
Availability:
No items available.
Save to lists
Add to cart
(remove)
19.
ARSA-PD associated alleles in the Portuguese population: frequency determination and haplotype analysis.
[electronic resource]
by
Marcão, Ana
Pinto, Eugénia
Rocha, Sónia
Sá Miranda, M C
Ferreira, Luís
Amaral, Olga
Producer:
20040601
In:
Molecular genetics and metabolism
vol. 79
Online resources:
Available from publisher's website
Availability:
No items available.
Save to lists
Add to cart
(remove)
20.
Retrovirus-mediated transfer and expression of beta-hexosaminidase alpha-chain cDNA in human fibroblasts from G(M2)-gangliosidosis B1 variant.
[electronic resource]
by
Teixeira, C A
Sena-Esteves, M
Lopes, L
Sá Miranda, M C
Ribeiro, M G
Producer:
20011204
In:
Human gene therapy
vol. 12
Online resources:
Available from publisher's website
Availability:
No items available.
Save to lists
Add to cart
(remove)
1
2
3
Next
Last