Works matching DE "ANGIOKERATOMA corporis diffusum"
Results: 1148
NASCI case of the month: "pseudo normalization of T1 values in Anderson-Fabry disease".
- Published in:
- 2025
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- Publication type:
- Case Study
Prevalence and Clinical Correlates of Cerebrovascular Alterations in Fabry Disease: A Cross-Sectional Study.
- Published in:
- Brain Sciences (2076-3425), 2025, v. 15, n. 2, p. 166, doi. 10.3390/brainsci15020166
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- Publication type:
- Article
Dizziness in Fabry Disease.
- Published in:
- Biomedicines, 2025, v. 13, n. 2, p. 249, doi. 10.3390/biomedicines13020249
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- Publication type:
- Article
High-risk screening for Fabry disease in hemodialysis patients in Chiba Prefecture, Japan.
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- Clinical & Experimental Nephrology, 2023, v. 27, n. 3, p. 288, doi. 10.1007/s10157-022-02295-w
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- Publication type:
- Article
A possible case of carbamazepine-induced renal phospholipidosis mimicking Fabry disease.
- Published in:
- Clinical & Experimental Nephrology, 2022, v. 26, n. 3, p. 303, doi. 10.1007/s10157-021-02172-y
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- Publication type:
- Article
X-chromosome inactivation patterns in females with Fabry disease examined by both ultra-deep RNA sequencing and methylation-dependent assay.
- Published in:
- Clinical & Experimental Nephrology, 2021, v. 25, n. 11, p. 1224, doi. 10.1007/s10157-021-02099-4
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- Publication type:
- Article
Zebra bodies without Fabry disease or hydroxychloroquine.
- Published in:
- Clinical & Experimental Nephrology, 2021, v. 25, n. 1, p. 94, doi. 10.1007/s10157-020-01965-x
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- Publication type:
- Article
Efficacy and safety of migalastat in a Japanese population: a subgroup analysis of the ATTRACT study.
- Published in:
- Clinical & Experimental Nephrology, 2020, v. 24, n. 2, p. 157, doi. 10.1007/s10157-019-01810-w
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- Publication type:
- Article
Plasma lyso-Gb3: a biomarker for monitoring fabry patients during enzyme replacement therapy.
- Published in:
- Clinical & Experimental Nephrology, 2018, v. 22, n. 4, p. 843, doi. 10.1007/s10157-017-1525-3
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- Publication type:
- Article
Heterozygous Fabry disease complicated by acute onset paralysis.
- Published in:
- Clinical & Experimental Nephrology, 2017, v. 21, n. 5, p. 941, doi. 10.1007/s10157-016-1351-z
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- Publication type:
- Article
Prevalence of Fabry disease in dialysis patients: Japan Fabry disease screening study (J-FAST).
- Published in:
- Clinical & Experimental Nephrology, 2016, v. 20, n. 2, p. 284, doi. 10.1007/s10157-015-1146-7
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- Publication type:
- Article
Fabry disease: experience of screening dialysis patients for Fabry disease.
- Published in:
- Clinical & Experimental Nephrology, 2014, v. 18, n. 2, p. 269, doi. 10.1007/s10157-013-0897-2
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- Publication type:
- Article
Posterior versus Anterior Circulation Stroke in Young Adults: A Comparative Study of Stroke Aetiologies and Risk Factors in Stroke among Young Fabry Patients (sifap1).
- Published in:
- Cerebrovascular Diseases, 2017, v. 43, n. 3/4, p. 152, doi. 10.1159/000454840
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- Publication type:
- Article
Enzyme Replacement Therapy Stabilized White Matter Lesion Progression in Fabry Disease.
- Published in:
- Cerebrovascular Diseases, 2015, v. 38, n. 6, p. 448, doi. 10.1159/000369293
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- Publication type:
- Article
Biopharmaceutical applications of α‐galactosidases.
- Published in:
- Biotechnology & Applied Biochemistry, 2023, v. 70, n. 1, p. 257, doi. 10.1002/bab.2349
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- Publication type:
- Article
Single-mutations at the galactose-binding site of enzymes GalK, GalU, and LgtC enable the efficient synthesis of UDP-6-azido-6-deoxy-d-galactose and azido-functionalized Gb3 analogs.
- Published in:
- Glycobiology, 2023, v. 33, n. 8, p. 651, doi. 10.1093/glycob/cwad045
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- Publication type:
- Article
Psychiatric Treatment Process of an Elderly Woman Patient Diagnosed with Anderson-Fabry Disease.
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- Journal of Tepecik Education & Research Hospital / İzmir Tepecik Eğitim ve Araştırma Hastanesi Dergisi, 2021, v. 31, n. 1, p. 110, doi. 10.5222/terh.2021.13245
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- Publication type:
- Article
What Is the Role of Sensorineural Hearing Loss in Fabry Disease Screening?
- Published in:
- Turkish Archives of Otorhinolaryngology, 2023, v. 61, n. 2, p. 52, doi. 10.4274/tao.2023.2023-3-10
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- Publication type:
- Article
Prevalencia de daño renal previo al diagnóstico de enfermedad de Fabry en Argentina.
- Published in:
- Revista de Nefrología Diálisis y Trasplante, 2022, v. 42, n. 3, p. 215
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- Publication type:
- Article
Missed diagnosis of Fabry disease: should we screen patients with multiple sclerosis?
- Published in:
- Neurological Sciences, 2024, v. 45, n. 1, p. 231, doi. 10.1007/s10072-023-06962-y
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- Publication type:
- Article
Screening for Fabry disease in a series of Parkinson's disease patients and literature review.
- Published in:
- Neurological Sciences, 2023, v. 44, n. 4, p. 1235, doi. 10.1007/s10072-022-06554-2
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- Publication type:
- Article
How relevant are cerebral white matter lesions in the D313Y variant of the α-galactosidase A gene? Neurological, cardiological, laboratory, and MRI data of 21 patients within a follow-up of 3 years.
- Published in:
- Neurological Sciences, 2023, v. 44, n. 4, p. 1375, doi. 10.1007/s10072-022-06533-7
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- Publication type:
- Article
Aseptic meningitis in Fabry disease due to a novel GLA variant: an expanded phenotype?
- Published in:
- Neurological Sciences, 2023, v. 44, n. 1, p. 319, doi. 10.1007/s10072-022-06388-y
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- Publication type:
- Article
Maternal germline mosaicism in Fabry disease.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Intracranial arterial dolichoectasia and superficial siderosis associated to neurofibromatosis type 1: report of one case.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
Fabry disease with lenticular degeneration without pulvinar sign.
- Published in:
- 2017
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- Publication type:
- Case Study
FABry Disease Patient-Reported Outcome-GastroIntestinal (FABPRO-GI): A new Fabry disease-specific gastrointestinal outcomes instrument.
- Published in:
- Quality of Life Research, 2021, v. 30, n. 10, p. 2983, doi. 10.1007/s11136-021-02847-9
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- Publication type:
- Article
Catheter Ablation of Reentrant Left Ventricular Tachycardia Associated with Fabry disease: A Case Report
- Published in:
- Journal of Arrhythmia, 2010, v. 26, n. 3, p. 209, doi. 10.1016/S1880-4276(10)80009-2
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- Publication type:
- Article
Update on Neuropathies in Inborn Errors of Metabolism.
- Published in:
- Brain Sciences (2076-3425), 2021, v. 11, n. 6, p. 763, doi. 10.3390/brainsci11060763
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- Publication type:
- Article
Cerebral Hemodynamic Changes to Transcranial Doppler in Asymptomatic Patients with Fabry's Disease.
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- Brain Sciences (2076-3425), 2020, v. 10, n. 8, p. 546, doi. 10.3390/brainsci10080546
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- Publication type:
- Article
Evaluation of Cerebral Microvascular Regulatory Mechanisms with Transcranial Doppler in Fabry Disease.
- Published in:
- Brain Sciences (2076-3425), 2020, v. 10, n. 8, p. 528, doi. 10.3390/brainsci10080528
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- Publication type:
- Article
UPLC-MS/MS High-Risk Screening for Sphingolipidoses Using Dried Urine Spots.
- Published in:
- Biomolecules (2218-273X), 2024, v. 14, n. 12, p. 1612, doi. 10.3390/biom14121612
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- Publication type:
- Article
Therapeutic Role of Pharmacological Chaperones in Lysosomal Storage Disorders: A Review of the Evidence and Informed Approach to Reclassification.
- Published in:
- Biomolecules (2218-273X), 2023, v. 13, n. 8, p. 1227, doi. 10.3390/biom13081227
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- Publication type:
- Article
Development of Lanzyme as the Potential Enzyme Replacement Therapy Drug for Fabry Disease.
- Published in:
- Biomolecules (2218-273X), 2023, v. 13, n. 1, p. 53, doi. 10.3390/biom13010053
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- Publication type:
- Article
An Overview of Molecular Mechanisms in Fabry Disease.
- Published in:
- Biomolecules (2218-273X), 2022, v. 12, n. 10, p. N.PAG, doi. 10.3390/biom12101460
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- Publication type:
- Article
The New Pharmacological Chaperones PBXs Increase α-Galactosidase A Activity in Fabry Disease Cellular Models.
- Published in:
- Biomolecules (2218-273X), 2021, v. 11, n. 12, p. 1856, doi. 10.3390/biom11121856
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- Publication type:
- Article
Newborn Screening for Fabry Disease in Northeastern Italy: Results of Five Years of Experience.
- Published in:
- Biomolecules (2218-273X), 2021, v. 11, n. 7, p. 951, doi. 10.3390/biom11070951
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- Publication type:
- Article
Fabry Disease: Molecular Basis, Pathophysiology, Diagnostics and Potential Therapeutic Directions.
- Published in:
- Biomolecules (2218-273X), 2021, v. 11, n. 2, p. 271, doi. 10.3390/biom11020271
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- Publication type:
- Article
Rapid Clathrin-Mediated Uptake of Recombinant α-Gal-A to Lysosome Activates Autophagy.
- Published in:
- Biomolecules (2218-273X), 2020, v. 10, n. 6, p. 837, doi. 10.3390/biom10060837
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- Publication type:
- Article
Human Alpha Galactosidases Transiently Produced in Nicotiana benthamiana Leaves: New Insights in Substrate Specificities with Relevance for Fabry Disease.
- Published in:
- Frontiers in Plant Science, 2017, p. 1, doi. 10.3389/fpls.2017.01026
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- Publication type:
- Article
Human Alpha Galactosidases Transiently Produced in Nicotiana benthamiana Leaves: New Insights in Substrate Specificities with Relevance for Fabry Disease.
- Published in:
- Frontiers in Plant Science, 2017, p. 1, doi. 10.3389/fpls.2017.01026
- By:
- Publication type:
- Article
Case report: First diagnosis of Fabry disease in North Macedonia in a patient presenting with kidney failure on hemodialysis.
- Published in:
- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1415906
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- Publication type:
- Article
Globotriaosylsphingosine induces oxidative DNA damage in cultured kidney cells.
- Published in:
- Nephrology, 2017, v. 22, n. 6, p. 490, doi. 10.1111/nep.12977
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- Publication type:
- Article
Kidney transplantation from a mother with unrecognized Fabry disease to her son with low α-galactosidase A activity: A 14-year follow-up without enzyme replacement therapy.
- Published in:
- Nephrology, 2016, v. 21, p. 57, doi. 10.1111/nep.12771
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- Publication type:
- Article
The Benefits of Early versus Late Therapeutic Intervention in Fabry Disease.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
Novel GLA Deletion in a Cypriot Female Presenting with Cornea Verticillata.
- Published in:
- Case Reports in Genetics, 2016, p. 1, doi. 10.1155/2016/5208312
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- Publication type:
- Article
Angiokeratoma corporis diffusum universale: A rare case report from Nepal.
- Published in:
- Our Dermatology Online / Nasza Dermatologia Online, 2021, v. 12, n. 2, p. 174, doi. 10.7241/ourd.20212.18
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- Publication type:
- Article
3.
- Published in:
- Our Dermatology Online / Nasza Dermatologia Online, 2021, v. 12, n. 2, p. 130, doi. 10.7241/ourd.20212.5
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- Publication type:
- Article
Eponyms related to genetic disorders associated with gingival enlargement: Part II.
- Published in:
- Our Dermatology Online / Nasza Dermatologia Online, 2015, v. 6, n. 1, p. 114, doi. 10.7241/ourd.20151.32
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- Publication type:
- Article
Growth Differentiation Factor-15 and Syndecan-1 Are Potential Biomarkers of Cardiac and Renal Involvement in Classical Fabry Disease under Enzyme Replacement Therapy.
- Published in:
- Kidney & Blood Pressure Research, 2022, v. 47, n. 4, p. 229, doi. 10.1159/000521329
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- Publication type:
- Article