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Altered collagen in tartrate-resistant acid phosphatase (TRAP)-deficient mice: a role for TRAP in bone collagen metabolism.
- Published in:
- 2007
- By:
- Publication type:
- journal article
Editorial.
- Published in:
- Expert Reviews in Molecular Medicine, 2016, v. 18, p. 1, doi. 10.1017/erm.2016.10
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- Publication type:
- Article
Editorial: Prevention, diagnosis and treatment of rare disorders.
- Published in:
- Frontiers in Pharmacology, 2022, v. 13, p. 1, doi. 10.3389/fphar.2022.1026064
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- Publication type:
- Article
Metachromatic Leukodystrophy.
- Published in:
- Journal of Child Neurology, 2016, v. 31, n. 13, p. 1457, doi. 10.1177/0883073816656401
- By:
- Publication type:
- Article
Compassionate use of orphan drugs.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0306-x
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- Publication type:
- Article
Compassionate use of orphan drugs.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0306-x
- By:
- Publication type:
- Article
Compassionate use of orphan drugs.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 100, doi. 10.1186/s13023-015-0306-x
- By:
- Publication type:
- Article
The legal imperative for treating rare disorders.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-135
- By:
- Publication type:
- Article
Evaluation of miglustat as maintenance therapy after enzyme therapy in adults with stable type 1 Gaucher disease: a prospective, open-label non-inferiority study.
- Published in:
- Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 102, doi. 10.1186/1750-1172-7-102
- By:
- Publication type:
- Article
Venglustat combined with imiglucerase for neurological disease in adults with Gaucher disease type 3: the LEAP trial.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 2, p. 461, doi. 10.1093/brain/awac379
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- Publication type:
- Article
Reduced cerebral vascularization in experimental neuronopathic Gaucher disease.
- Published in:
- Journal of Pathology, 2018, v. 244, n. 1, p. 120, doi. 10.1002/path.4992
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- Publication type:
- Article
Inhibition of UDP-glucosylceramide synthase in mice prevents Gaucher disease-associated B-cell malignancy.
- Published in:
- Journal of Pathology, 2015, v. 235, n. 1, p. 113, doi. 10.1002/path.4452
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- Publication type:
- Article
Splenic Artery Aneurysms, a Rare Complication of Type 1 Gaucher Disease: Report of Five Cases.
- Published in:
- Journal of Clinical Medicine, 2019, v. 8, n. 2, p. 219, doi. 10.3390/jcm8020219
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- Publication type:
- Article
Decrease in Myelin-Associated Lipids Precedes Neuronal Loss and Glial Activation in the CNS of the Sandhoff Mouse as Determined by Metabolomics.
- Published in:
- Metabolites (2218-1989), 2021, v. 11, n. 1, p. 18, doi. 10.3390/metabo11010018
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- Publication type:
- Article
Gaucher disease: clinical profile and therapeutic developments.
- Published in:
- Biologics: Targets & Therapy, 2010, v. 4, p. 299, doi. 10.2147/BTT.S7582
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- Publication type:
- Article
TRACP Influences Th1 Pathways by Affecting Dendritic Cell Function.
- Published in:
- Journal of Bone & Mineral Research, 2006, v. 21, n. 9, p. 1367, doi. 10.1359/jbmr.060611
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- Publication type:
- Article
Tartrate-Resistant Acid Phosphatase Knockout Mice.
- Published in:
- Journal of Bone & Mineral Research, 2003, v. 18, n. 10, p. 1905, doi. 10.1359/jbmr.2003.18.10.1905
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- Publication type:
- Article
RIPK3 as a potential therapeutic target for Gaucher's disease.
- Published in:
- Nature Medicine, 2014, v. 20, n. 2, p. 204, doi. 10.1038/nm.3449
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- Publication type:
- Article
The cellular pathology of lysosomal diseases.
- Published in:
- Journal of Pathology, 2012, v. 226, n. 2, p. 241, doi. 10.1002/path.3021
- By:
- Publication type:
- Article
Polymorphism in intron 4 of HFE does not compromise haemochromatosis mutation results.
- Published in:
- Nature Genetics, 1999, v. 23, n. 3, p. 271, doi. 10.1038/15452
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- Publication type:
- Article
GM2 gangliosidosis in a UK study of children with progressive neurodegeneration: 73 cases reviewed.
- Published in:
- Developmental Medicine & Child Neurology, 2012, v. 54, n. 2, p. 176, doi. 10.1111/j.1469-8749.2011.04160.x
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- Publication type:
- Article
Timeline: The genetic consequences of our sweet tooth.
- Published in:
- Nature Reviews Genetics, 2002, v. 3, n. 6, p. 481, doi. 10.1038/nrg815
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- Publication type:
- Article
The Two Substrate Reduction Therapies for Type 1 Gaucher Disease Are Not Equivalent. Comment on Hughes et al. Switching between Enzyme Replacement Therapies and Substrate Reduction Therapies in Patients with Gaucher Disease: Data from the Gaucher Outcome Survey (GOS). J. Clin. Med. 2022, 11 , 5158
- Published in:
- 2023
- By:
- Publication type:
- Letter
A Specific Activity-Based Probe to Monitor Family GH59 Galactosylceramidase, the Enzyme Deficient in Krabbe Disease.
- Published in:
- ChemBioChem, 2017, v. 18, n. 4, p. 402, doi. 10.1002/cbic.201600561
- By:
- Publication type:
- Article
Therapeutic Response in Feline Sandhoff Disease Despite Immunity to Intracranial Gene Therapy.
- Published in:
- Molecular Therapy, 2013, v. 21, n. 7, p. 1306, doi. 10.1038/mt.2013.86
- By:
- Publication type:
- Article
Gene Transfer Corrects Acute GM2 Gangliosidosis-Potential Therapeutic Contribution of Perivascular Enzyme Flow.
- Published in:
- Molecular Therapy, 2012, v. 20, n. 8, p. 1489, doi. 10.1038/mt.2012.44
- By:
- Publication type:
- Article
Miglustat: A Viewpoint by Timothy M. Cox.
- Published in:
- Drugs, 2003, v. 63, n. 22, p. 2435, doi. 10.2165/00003495-200363220-00009
- By:
- Publication type:
- Article
The Cambridge Bachelor of Medicine (MB)/Doctor of Philosophy (PhD): graduate outcomes of the first MB/PhD programme in the UK.
- Published in:
- 2012
- By:
- Publication type:
- Journal Article
The Cambridge Bachelor of Medicine (MB)/Doctor of Philosophy (PhD): graduate outcomes of the first MB/PhD programme in the UK.
- Published in:
- Clinical Medicine, 2012, v. 12, n. 6, p. 530, doi. 10.7861/clinmedicine.12-6-530
- By:
- Publication type:
- Article
Thirty-year clinical outcomes after haematopoietic stem cell transplantation in neuronopathic Gaucher disease.
- Published in:
- 2022
- By:
- Publication type:
- journal article
In-depth phenotyping for clinical stratification of Gaucher disease.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Fructose intolerance: diet and inheritance.
- Published in:
- Proceedings of the Nutrition Society, 1991, v. 50, n. 2, p. 305, doi. 10.1079/PNS19910040
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- Publication type:
- Article
Upregulation of non-canonical and canonical inflammasome genes associates with pathological features in Krabbe disease and related disorders.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 8, p. 1361, doi. 10.1093/hmg/ddac299
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- Publication type:
- Article
Hereditary haemochromatosis.
- Published in:
- European Journal of Haematology, 1989, v. 42, n. 2, p. 113, doi. 10.1111/j.1600-0609.1989.tb01200.x
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- Publication type:
- Article
Clonal rearrangement of the T-cell receptor γ gene associated with a bizarre lymphoproliferative syndrome.
- Published in:
- European Journal of Haematology, 1988, v. 41, n. 3, p. 289, doi. 10.1111/j.1600-0609.1988.tb01195.x
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- Publication type:
- Article
The motor and cognitive features of Parkinson’s disease in patients with concurrent Gaucher disease over 2 years: a case series.
- Published in:
- Journal of Neurology, 2018, v. 265, n. 8, p. 1789, doi. 10.1007/s00415-018-8908-6
- By:
- Publication type:
- Article
Haematopoietic stem cell transplantation does not retard disease progression in the psycho‐cognitive variant of late‐onset metachromatic leukodystrophy.
- Published in:
- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 471, doi. 10.1007/s10545-010-9240-1
- By:
- Publication type:
- Article
Improving the quantitative classification of Erlenmeyer flask deformities.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Expression of Ripk1 and DAM genes correlates with severity and progression of Krabbe disease.
- Published in:
- Human Molecular Genetics, 2021, v. 30, n. 22, p. 2082, doi. 10.1093/hmg/ddab159
- By:
- Publication type:
- Article
lysosomal disease caused by mutant VPS33A.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 15, p. 2514, doi. 10.1093/hmg/ddz077
- By:
- Publication type:
- Article
Reversibility of neuropathology in Tay–Sachs-related diseases.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 3, p. 730
- By:
- Publication type:
- Article
Adeno-associated virus-mediated expression of β-hexosaminidase prevents neuronal loss in the Sandhoff mouse brain.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 22, p. 4371, doi. 10.1093/hmg/ddr364
- By:
- Publication type:
- Article
Imiglucerase in the treatment of Gaucher disease: a history and perspective.
- Published in:
- Drug Design, Development & Therapy, 2012, v. 6, p. 81, doi. 10.2147/DDDT.S14395
- By:
- Publication type:
- Article
Molecular Characterization of a Ferrochelatase Gene Defect Causing Anomalous RNA Splicing in Erythropoietic Protoporphyria.
- Published in:
- Journal of Investigative Dermatology, 1994, v. 102, n. 4, p. 481, doi. 10.1111/1523-1747.ep12373073
- By:
- Publication type:
- Article
Genetic Heterogeneity in Erythropoietic Protoporphyria: A Study of the Enzymatic Defect in Nine Affected Families.
- Published in:
- Journal of Investigative Dermatology, 1990, v. 95, n. 3, p. 260, doi. 10.1111/1523-1747.ep12484876
- By:
- Publication type:
- Article
Gaucher disease and comorbidities: B-cell malignancy and parkinsonism.
- Published in:
- American Journal of Hematology, 2015, v. 90, p. S25, doi. 10.1002/ajh.24057
- By:
- Publication type:
- Article
Competing for the treasure in exceptions.
- Published in:
- American Journal of Hematology, 2013, v. 88, n. 3, p. 163, doi. 10.1002/ajh.23399
- By:
- Publication type:
- Article
889. Adeno-Associated Virus Gene Therapy of Feline Gangliosidosis.
- Published in:
- Molecular Therapy, 2006, v. 13, p. S342, doi. 10.1016/j.ymthe.2006.08.978
- By:
- Publication type:
- Article
226. Effective Gene Therapy in an Authentic Mouse Model of Tay-Sachs Related Diseases.
- Published in:
- Molecular Therapy, 2006, v. 13, p. S86, doi. 10.1016/j.ymthe.2006.08.251
- By:
- Publication type:
- Article
L-Arginine Ameliorates Defective Autophagy in GM2 Gangliosidoses by mTOR Modulation.
- Published in:
- Cells (2073-4409), 2021, v. 10, n. 11, p. 3122, doi. 10.3390/cells10113122
- By:
- Publication type:
- Article