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	21.	Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterations. [electronic resource] by Ribeiro, I Marcão, A Amaral, O Sá Miranda, M C Vanier, M T Millat, G Producer: 20010920 In: Human genetics vol. 109 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	22.	Type 1 Gaucher disease: molecular, biochemical, and clinical characterization of patients from northern Portugal. [electronic resource] by Amaral, O Lacerda, L Santos, R Pinto, R A Aerts, H Sa Miranda, M C Producer: 19930401 In: Biochemical medicine and metabolic biology vol. 49 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	23.	Biological evaluation of calcium alginate microspheres as a vehicle for the localized delivery of a therapeutic enzyme. [electronic resource] by Barrias, C C Lamghari, M Granja, P L Sá Miranda, M C Barbosa, M A Producer: 20051026 In: Journal of biomedical materials research. Part A vol. 74 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	24.	Adsorption of a therapeutic enzyme to self-assembled monolayers: effect of surface chemistry and solution pH on the amount and activity of adsorbed enzyme. [electronic resource] by Barrias, Cristina C Martins, M A Cristina L Sá Miranda, M A Clara Barbosa, Mário A Producer: 20050607 In: Biomaterials vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	25.	Biochemical characterization of beta-hexosaminidase in different biological specimens from eleven patients with GM2-gangliosidosis B1 variant. [electronic resource] by Ribeiro, M G Pinto, R A Dos Santos, M R Maia, M Sá Miranda, M C Producer: 19920310 In: Journal of inherited metabolic disease vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	26.	Progressive myoclonus epilepsy with nephropathy C1q due to SCARB2/LIMP-2 deficiency: clinical report of two siblings. [electronic resource] by Chaves, João Beirão, Idalina Balreira, Andrea Gaspar, Paulo Caiola, Daniel Sá-Miranda, M Clara Lima, José L Producer: 20120730 In: Seizure vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	27.	GM2-gangliosidosis B1 variant: analysis of beta-hexosaminidase alpha gene mutations in 11 patients from a defined region in Portugal. [electronic resource] by dos Santos, M R Tanaka, A sá Miranda, M C Ribeiro, M G Maia, M Suzuki, K Producer: 19911022 In: American journal of human genetics vol. 49 Availability: No items available. Save to lists Add to cart (remove)
	28.	Relationships between serum markers of monocyte/macrophage activation in type 1 Gaucher's disease. [electronic resource] by Casal, J Antonio Lacerda, Lúcia Pérez, Luis F Pinto, Rui A Clara Sá Miranda, M Carlos Tutor, J Producer: 20020927 In: Clinical chemistry and laboratory medicine vol. 40 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	29.	Kidney histologic alterations in α-Galactosidase-deficient mice. [electronic resource] by Valbuena, Carmen Oliveira, João Paulo Carneiro, Fátima Relvas, Sandra Ganhão, Mariana Sá-Miranda, M Clara Rodrigues, Lorena G Producer: 20110519 In: Virchows Archiv : an international journal of pathology vol. 458 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	30.	Effect of single-nucleotide polymorphisms of the 5' untranslated region of the human α-galactosidase gene on enzyme activity, and their frequencies in Portuguese caucasians. [electronic resource] by Oliveira, J P Ferreira, S Barceló, J Gaspar, P Carvalho, F Sá Miranda, M C Månsson, J-E Producer: 20120111 In: Journal of inherited metabolic disease vol. 31 Suppl 2 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	31.	Morphological and biochemical assessment of the cornea in a Gaucher disease carrier with keratoconus. [electronic resource] by Salgado-Borges, J Silva-Araújo, A Lemos, M M Sá-Miranda, M C Abreu-Dias, P Tavares, M A Producer: 19951107 In: European journal of ophthalmology vol. 5 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	32.	Thermodynamic characterisation of the mutated isoenzyme A of beta-N-acetylhexosaminidase in GM2-gangliosidosis B1 variant. [electronic resource] by Pérez, L F Ribeiro, H M Casal, J A Pinto, R A Sá Miranda, M C Tutor, J C Producer: 19991006 In: Clinica chimica acta; international journal of clinical chemistry vol. 285 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	33.	Conditions affecting the activity of glucocerebrosidase purified from spleens of control subjects and patients with type 1 Gaucher disease. [electronic resource] by Aerts, J M Sa Miranda, M C Brouwer-Kelder, E M Van Weely, S Barranger, J A Tager, J M Producer: 19901212 In: Biochimica et biophysica acta vol. 1041 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	34.	[Description of a new mutation in a female patient with Fabry disease]. [electronic resource] by Correia, Emanuel Vidinha, Joana Rodrigues, Bruno Santos, Luís Moreira, Davide Garrido, Jesus Clara Sá Miranda, M Cabral, Costa Santos, Oliveira Producer: 20111215 In: Revista portuguesa de cardiologia : orgao oficial da Sociedade Portuguesa de Cardiologia = Portuguese journal of cardiology : an official journal of the Portuguese Society of Cardiology vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	35.	Role of pH in determining the cell-type-specific residual activity of glucocerebrosidase in type 1 Gaucher disease. [electronic resource] by van Weely, S van den Berg, M Barranger, J A Sa Miranda, M C Tager, J M Aerts, J M Producer: 19930413 In: The Journal of clinical investigation vol. 91 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	36.	X-linked adrenoleukodystrophy and haemophilia A in the same kindred. [electronic resource] by Nogueira, A Jorge, P Dores, J Cunha, M Sousa, S Pereira, I Campos, M Justiça, B Quelhas, D Sá Miranda, M Producer: 19950817 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)
	37.	Clinical, enzymatic, and molecular characterisation of a Portuguese family with a chronic form of GM2-gangliosidosis B1 variant. [electronic resource] by Ribeiro, M G Sonin, T Pinto, R A Fontes, A Ribeiro, H Pinto, E Palmeira, M M Sá Miranda, M C Producer: 19960925 In: Journal of medical genetics vol. 33 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	38.	Heterogeneity in human acid beta-glucosidase revealed by cellulose-acetate electrophoresis. [electronic resource] by Sa Miranda, M C Aerts, J M Pinto, R A Magalhaes, J A Barranger, J A Tager, J M Schram, A W Producer: 19880616 In: Biochimica et biophysica acta vol. 965 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	39.	Neurophysiological, behavioral and morphological abnormalities in the Fabry knockout mice. [electronic resource] by Rodrigues, L G Ferraz, M J Rodrigues, D Pais-Vieira, M Lima, D Brady, R O Sousa, M M Sá-Miranda, M C Producer: 20090217 In: Neurobiology of disease vol. 33 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	40.	Activity of glucocerebrosidase in extracts of different cell types from type 1 Gaucher disease patients. [electronic resource] by Sa Miranda, M C Aerts, J M Pinto, R Fontes, A de Lacerda, L W van Weely, S Barranger, J Tager, J M Producer: 19901204 In: Clinical genetics vol. 38 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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