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Mucopolysaccharidosis Type II in Zambia: A case report highlighting the importance of multi-level collaborations in rare diseases globally.
- Published in:
- Medical Journal of Zambia, 2024, v. 51, n. 2, p. 190, doi. 10.55320/mjz.51.2.543
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- Publication type:
- Article
Non-invasive optoacoustic imaging of glycogen-storage and muscle degeneration in late-onset Pompe disease.
- Published in:
- Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-52143-6
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- Publication type:
- Article
Inflammatory cytokine expression in Fabry disease: impact of disease phenotype and alterations under enzyme replacement therapy.
- Published in:
- Frontiers in Immunology, 2024, p. 01, doi. 10.3389/fimmu.2024.1367252
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- Publication type:
- Article
Unexpected cause of lower limb edema.
- Published in:
- Pan African Medical Journal, 2024, v. 47, p. 1, doi. 10.11604/pamj.2024.47.210.43390
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- Publication type:
- Article
Early Symptoms and Treatment Outcomes in Neuronal Ceroid Lipofuscinosis Type 2: Croatian Experience.
- Published in:
- Journal of Personalized Medicine, 2024, v. 14, n. 8, p. 783, doi. 10.3390/jpm14080783
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- Publication type:
- Article
Reply to Aranda et al.
- Published in:
- Pediatric Allergy & Immunology, 2024, v. 35, n. 8, p. 1, doi. 10.1111/pai.14219
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- Publication type:
- Article
Subject: Comment on Spataro et al.
- Published in:
- Pediatric Allergy & Immunology, 2024, v. 35, n. 8, p. 1, doi. 10.1111/pai.14214
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- Publication type:
- Article
Intravenous Idursulfase for the Treatment of Mucopolysaccharidosis Type II: A Systematic Literature Review.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 16, p. 8573, doi. 10.3390/ijms25168573
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- Publication type:
- Article
Long-term eliglustat treatment of Gaucher patients over up to 10 years in Vienna.
- Published in:
- Wiener Klinische Wochenschrift, 2022, v. 134, n. 11/12, p. 471, doi. 10.1007/s00508-022-02021-2
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- Publication type:
- Article
Alterations of Plasmatic Biomarkers of Neurodegeneration in Mucopolysaccharidosis Type II Patients Under Enzyme Replacement Therapy.
- Published in:
- Cell Biochemistry & Biophysics, 2023, v. 81, n. 3, p. 533, doi. 10.1007/s12013-023-01149-w
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- Publication type:
- Article
An update on multiplexed mass spectrometry‐based lysosomal storage disease diagnosis.
- Published in:
- Mass Spectrometry Reviews, 2024, v. 43, n. 5, p. 1135, doi. 10.1002/mas.21864
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- Publication type:
- Article
Effects of Infantile Hypophosphatasia on Human Dental Tissue.
- Published in:
- Calcified Tissue International, 2023, v. 112, n. 3, p. 308, doi. 10.1007/s00223-022-01041-4
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- Publication type:
- Article
Developing Treatments for Rare Diseases on a Shoestring.
- Published in:
- GEN Biotechnology, 2023, v. 2, n. 5, p. 353, doi. 10.1089/genbio.2023.0033
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- Publication type:
- Article
Selectarea și utilizarea raţională a preparatelor enzimatice pancreatice.
- Published in:
- Farmacist.ro, 2022, n. 2, p. 16
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- Publication type:
- Article
P6‐28: Clinical case of using intravenous forms of anti‐tuberculosis drugs to improve the treatment efficiency of tuberculosis in patients with malabsorption syndrome (MS).
- Published in:
- Respirology, 2021, v. 26, p. 237, doi. 10.1111/resp.14150_394
- Publication type:
- Article
P6‐28: Clinical case of using intravenous forms of anti‐tuberculosis drugs to improve the treatment efficiency of tuberculosis in patients with malabsorption syndrome (MS).
- Published in:
- Respirology, 2021, v. 26, p. 237, doi. 10.1111/resp.14150_394
- Publication type:
- Article
Inhibition of Vascular Smooth Muscle Cell Proliferation by ENPP1: The Role of CD73 and the Adenosine Signaling Axis.
- Published in:
- Cells (2073-4409), 2024, v. 13, n. 13, p. 1128, doi. 10.3390/cells13131128
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- Publication type:
- Article
Preclinical Enzyme Replacement Therapy with a Recombinant β-Galactosidase-Lectin Fusion for CNS Delivery and Treatment of GM1-Gangliosidosis.
- Published in:
- Cells (2073-4409), 2022, v. 11, n. 16, p. 2579, doi. 10.3390/cells11162579
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- Publication type:
- Article
Six-Minute Walk Distance Is a Useful Outcome Measure to Detect Motor Decline in Treated Late-Onset Pompe Disease Patients.
- Published in:
- Cells (2073-4409), 2022, v. 11, n. 3, p. 334, doi. 10.3390/cells11030334
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- Publication type:
- Article
A Journey towards Understanding the Molecular Pathology and Developing Therapies for Lysosomal Storage Disorders.
- Published in:
- Cells (2073-4409), 2022, v. 11, n. 1, p. 36, doi. 10.3390/cells11010036
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- Publication type:
- Article
Buffy Coat Score as a Biomarker of Treatment Response in Neuronal Ceroid Lipofuscinosis Type 2.
- Published in:
- Brain Sciences (2076-3425), 2023, v. 13, n. 2, p. 209, doi. 10.3390/brainsci13020209
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- Publication type:
- Article
Real-world pharmacovigilance analysis of galsulfase: a study based on the FDA adverse event reporting system (FAERS) database.
- Published in:
- Frontiers in Pharmacology, 2024, p. 01, doi. 10.3389/fphar.2024.1420126
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- Publication type:
- Article
Genotypes and phenotypes of Sri Lankan Patients with Mucopolysaccharidosis type IVA.
- Published in:
- Journal of Nepal Paediatric Society, 2022, v. 42, n. 2, p. 80, doi. 10.3126/jnps.v42i2.41954
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- Publication type:
- Article
Soluble mannose receptor: A potential biomarker in Gaucher disease.
- Published in:
- European Journal of Haematology, 2024, v. 112, n. 5, p. 794, doi. 10.1111/ejh.14171
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- Publication type:
- Article
Clinicogenetic Profile, Treatment Modalities, and Mortality Predictors of Gaucher Disease: A 15-Year Retrospective Study.
- Published in:
- Public Health Genomics, 2021, v. 24, n. 3/4, p. 139, doi. 10.1159/000514507
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- Publication type:
- Article
Proceedings of the International SSADH Deficiency 2020 Conference.
- Published in:
- 2021
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- Publication type:
- Editorial
Enzyme Replacement Therapy for Succinic Semialdehyde Dehydrogenase Deficiency: Relevance in γ-Aminobutyric Acid Plasticity.
- Published in:
- Journal of Child Neurology, 2021, v. 36, n. 13/14, p. 1200, doi. 10.1177/0883073821993000
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- Publication type:
- Article
Development of the "Hamburg Best Practice Guidelines for ICV−Enzyme Replacement therapy (ERT) in CLN2 Disease" Based on 6 Years Treatment Experience in 48 Patients.
- Published in:
- Journal of Child Neurology, 2021, v. 36, n. 8, p. 635, doi. 10.1177/0883073821989154
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- Publication type:
- Article
Musculoskeletal Comorbidities and Quality of Life in ENPP1‐Deficient Adults and the Response of Enthesopathy to Enzyme Replacement Therapy in Murine Models.
- Published in:
- Journal of Bone & Mineral Research, 2022, v. 37, n. 3, p. 494, doi. 10.1002/jbmr.4487
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- Publication type:
- Article
Gene Therapy Using Adeno‐Associated Virus Serotype 8 Encoding TNAP‐D<sub>10</sub> Improves the Skeletal and Dentoalveolar Phenotypes in Alpl<sup>−/−</sup> Mice.
- Published in:
- Journal of Bone & Mineral Research, 2021, v. 36, n. 9, p. 1835, doi. 10.1002/jbmr.4382
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- Publication type:
- Article
Mulberry body in a patient with Fabry disease.
- Published in:
- QJM: An International Journal of Medicine, 2022, v. 115, n. 7, p. 473, doi. 10.1093/qjmed/hcac120
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- Publication type:
- Article
Femoral lengthening with enzyme replacement therapy in an adolescent patient with prenatal benign hypophosphatasia: A case report.
- Published in:
- Journal of Orthopaedic Science, 2023, v. 28, n. 6, p. 1487, doi. 10.1016/j.jos.2021.07.010
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- Publication type:
- Article
Pharmacological Chaperone Therapy for Pompe Disease.
- Published in:
- Molecules, 2021, v. 26, n. 23, p. 7223, doi. 10.3390/molecules26237223
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- Publication type:
- Article
Oxidative Stress in Mucopolysaccharidoses: Pharmacological Implications.
- Published in:
- Molecules, 2021, v. 26, n. 18, p. 5616, doi. 10.3390/molecules26185616
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- Publication type:
- Article
Intervenciones de enfermería en puérpera con riesgo de sangrado en IPS-Barranquilla 2022-2.
- Published in:
- Repertorio de Medicina y Cirugía, 2023, v. 32, p. 7, doi. 10.31260/RepertMedCir.01217372.1584
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- Publication type:
- Article
Terapia de reemplazo enzimático por 15 años en enfermedad de Pompe: reporte de caso.
- Published in:
- Repertorio de Medicina y Cirugía, 2023, v. 32, p. 7, doi. 10.31260/RepertMedCir.01217372.1584
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- Publication type:
- Article
Advances in the Molecular Etiology of Severe Combined Immunodeficiency and Its Screening.
- Published in:
- Turkish Journal of Immunology, 2023, v. 11, n. 1, p. 1, doi. 10.4274/tji.galenos.2023.29491
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- Publication type:
- Article
OP38 Evaluation Of A High-Cost Medicine For A Rare Disease: 16-Year Cohort Of Imiglucerase Use For Gaucher Disease In Brazil.
- Published in:
- 2023
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- Publication type:
- Abstract
PP131 European Market Access Landscape Analysis Of Reimbursement Drivers In Pompe Disease: Results From 26 Payer Interviews.
- Published in:
- International Journal of Technology Assessment in Health Care, 2022, v. 38, p. S84, doi. 10.1017/S0266462322002513
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- Publication type:
- Article
A Mortal Complication in a Case with ID Mucopolysaccharidosis Type I Following Hematopoietic Stem Cell Transplantation: Pulmonary Haemorrhage.
- Published in:
- Journal of Dr. Behcet Uz Children's Hospital, 2021, v. 11, n. 2, p. 198, doi. 10.5222/buchd.2021.26539
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- Publication type:
- Article
Early enzyme replacement therapy prevents dental and craniofacial abnormalities in a mouse model of mucopolysaccharidosis type VI.
- Published in:
- Frontiers in Physiology, 2022, v. 13, p. 1, doi. 10.3389/fphys.2022.998039
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- Publication type:
- Article
Role of serial cardiac <sup>18</sup>F-FDG PET-MRI in Anderson–Fabry disease: a pilot study.
- Published in:
- Insights into Imaging, 2021, v. 12, n. 1, p. 1, doi. 10.1186/s13244-021-01067-6
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- Publication type:
- Article
Lysosomal Acid Lipase Deficiency in the Etiological Investigation of Cryptogenic Liver Disease in Adults: A Multicenter Brazilian Study.
- Published in:
- Gastroenterology Insights, 2023, v. 14, n. 4, p. 564, doi. 10.3390/gastroent14040040
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- Publication type:
- Article
Generalized Arterial Calcification of Infancy (GACI): Optimizing Care with a Multidisciplinary Approach.
- Published in:
- Journal of Multidisciplinary Healthcare, 2022, v. 15, p. 1261, doi. 10.2147/JMDH.S251861
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- Publication type:
- Article
The successful inclusion of ADA SCID in Tuscany expanded newborn screening program.
- Published in:
- 2021
- By:
- Publication type:
- Letter
Deficience lyzozomální kyselé lipázy.
- Published in:
- Czecho-Slovak Pediatrics / Česko-Slovenská Pediatrie, 2024, v. 79, n. 4, p. 209
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- Publication type:
- Article
Pozdní diagnóza mukopolysacharidózy I. typu u dívky s kontrakturami rukou.
- Published in:
- Czecho-Slovak Pediatrics / Česko-Slovenská Pediatrie, 2023, v. 78, n. 3, p. 155, doi. 10.55095/cspediatrie2023/020
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- Publication type:
- Article
Dědičné poruchy metabolismu aminokyselin, organických kyselin a cyklu močoviny.
- Published in:
- Czecho-Slovak Pediatrics / Česko-Slovenská Pediatrie, 2022, v. 77, n. 6, p. 370
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- Publication type:
- Article
Fabryho choroba v dětském věku - přehled a kazuistika.
- Published in:
- Czecho-Slovak Pediatrics / Česko-Slovenská Pediatrie, 2022, v. 77, n. 4, p. 219
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- Publication type:
- Article
Fabry Disease: Current scenario in India using herbal plants.
- Published in:
- Allelopathy Journal, 2023, v. 59, n. 2, p. 239, doi. 10.26651/allelo.j/2023-59-2-1446
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- Publication type:
- Article