Your search returned 52 results.

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	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)

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Your search returned 52 results.