AnatomyOrganismsDiseasesChemicals and DrugsAnalytical, Diagnostic and Therapeutic Techniques and EquipmentPhenomena and ProcessesHealth Care
Enzyme Replacement Therapyalpha-GalactosidaseFabry DiseaseGaucher DiseaseGlycogen Storage Disease Type IIGlucosylceramidaseN-Acetylgalactosamine-4-Sulfatasealpha-GlucosidasesIduronidaseMucopolysaccharidosis VIMucopolysaccharidosis IMucopolysaccharidosis IIIduronate SulfataseLysosomal Storage DiseasesEstrogen Replacement TherapyHormone Replacement TherapyRenal Replacement TherapyPancreatic ExtractsTrihexosylceramidesMucopolysaccharidosis VIIMucopolysaccharidosesPancrelipasealpha-MannosidosisExocrine Pancreatic InsufficiencySphingolipidosesChondroitinsulfatasesMucopolysaccharidosis IVCerebroside-SulfataseLysosomesHypophosphatasiaLeukodystrophy, MetachromaticReceptor, IGF Type 2GlycosaminoglycansRecombinant ProteinsGlucuronidaseEnzymesAspartylglucosylaminaseAspartylglucosaminuria1-DeoxynojirimycinTreatment OutcomeChondro-4-SulfatasePsychosinebeta-Hexosaminidase beta ChainAdenosine Deaminasealpha-N-AcetylgalactosaminidaseCardiovascular AbnormalitiesCholesterol Ester Storage DiseaseGlucan 1,4-alpha-Glucosidasealpha-MannosidaseDisease Models, AnimalMeningesHexosaminidasesSevere Combined ImmunodeficiencyGlycogenGenetic TherapyPancreatinbeta-GlucosidaseMannosephosphatesMice, KnockoutMannose-Binding LectinsDependovirusTime FactorsIsoenzymesCHO CellsInjections, IntravenousCricetulusFollow-Up StudiesPostmenopauseKidneyTissue DistributionLiverInfusions, IntravenousCricetinaeAcute Kidney InjuryDisease ProgressionOligosaccharidesEstrogensProgestinsFibroblastsProteinuriaFinancial SupportAntibodiesProspective StudiesGalactosylceramidaseDrug Administration ScheduleProtein Modification, Translational

Assessment of renal pathology and dysfunction in children with Fabry disease. (25/208)

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PAS-positive lymphocyte vacuoles can be used as diagnostic screening test for Pompe disease. (26/208)

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New biotechnological and nanomedicine strategies for treatment of lysosomal storage disorders. (27/208)

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Drug delivery by red blood cells: vascular carriers designed by mother nature. (28/208)

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Oral pancreatic enzyme substitution therapy in chronic pancreatitis: is clinical response an appropriate marker for evaluation of therapeutic efficacy? (29/208)

CONTEXT: Malnutrition secondary to pancreatic exocrine insufficiency plays a prognostic role in chronic pancreatitis. Enzyme substitution therapy is generally prescribed to avoid diarrhea and weight loss, although it is unknown whether this is associated with normal absorption of nutrients and a normal nutritional status. OBJECTIVE: We aimed to evaluate whether an adequate clinical response to enzyme therapy can be used to predict a normal nutritional status in patients with chronic pancreatitis. PATIENTS: Thirty-one consecutive patients (25 males, 6 females; mean age 52 years,) with severe chronic pancreatitis and steatorrhea were enrolled in the study. INTERVENTION: Enzyme substitution therapy was indicated in cases with severe steatorrhea (more than 15 g/day), diarrhea and/or weight loss. Therapy was optimized in individual patients to obtain complete symptom relief. MAIN OUTCOME MEASURE: A nutritional evaluation including body mass index and serum levels of retinol-binding protein, prealbumin and transferrin was carried out. RESULTS: Ten out of ten patients with asymptomatic steatorrhea, who did not fulfill the criteria for enzyme substitution therapy, and 11 out of 21 patients (52.4%) with symptomatic or more severe steatorrhea, who were under enzyme substitution therapy, showed a deficient nutritional status. CONCLUSIONS: An appropriate clinical response to enzyme substitution therapy does not allow the prediction of a normal nutritional status in patients with chronic pancreatitis.  (+info)

Phase 1/2 and extension study of velaglucerase alfa replacement therapy in adults with type 1 Gaucher disease: 48-month experience. (30/208)

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Nervous system and Fabry disease, from symptoms to diagnosis: damage evaluation and follow-up in adult patients, enzyme replacement, and support therapy. (31/208)

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Improved management of lysosomal glucosylceramide levels in a mouse model of type 1 Gaucher disease using enzyme and substrate reduction therapy. (32/208)

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