Works matching DE "ANGIOKERATOMA corporis diffusum"
Results: 1160
Enzyme replacement therapy in India: Lessons and insights.
- Published in:
- 2018
- By:
- Publication type:
- Editorial
Corneal densitometry: a potential indicator for early diagnosis of Fabry disease.
- Published in:
- Graefe's Archive of Clinical & Experimental Ophthalmology, 2021, v. 259, n. 4, p. 941, doi. 10.1007/s00417-020-05027-6
- By:
- Publication type:
- Article
Assessment of corneal topographic, tomographic, densitometric, and biomechanical properties of Fabry patients with ocular manifestations.
- Published in:
- Graefe's Archive of Clinical & Experimental Ophthalmology, 2020, v. 258, n. 5, p. 1057, doi. 10.1007/s00417-019-04593-8
- By:
- Publication type:
- Article
A case of type II fucosidosisdiagnosed with neuroradiological and dysmorphological findings.
- Published in:
- Current Journal of Neurology, 2023, v. 22, n. 4, p. 265, doi. 10.18502/cjn.v22i4.14534
- By:
- Publication type:
- Article
Psychiatric Treatment Process of an Elderly Woman Patient Diagnosed with Anderson-Fabry Disease.
- Published in:
- 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
- By:
- Publication type:
- Article
Successful treatment using agalsidase alfa of a patient with Fabry disease who had anaphylaxis after agalsidase beta: A case report.
- Published in:
- Northern Clinics of Istanbul, 2024, v. 11, n. 1, p. 88, doi. 10.14744/nci.2022.45656
- By:
- Publication type:
- Article
In Vivo Delivery of Therapeutic Molecules by Transplantation of Genome-Edited Induced Pluripotent Stem Cells.
- Published in:
- Cell Transplantation, 2023, v. 32, p. 1, doi. 10.1177/09636897231173734
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- Publication type:
- Article
Genetically Modified Cell Transplantation Through Macroencapsulated Spheroids with Scaffolds to Treat Fabry Disease.
- Published in:
- Cell Transplantation, 2021, v. 30, p. 1, doi. 10.1177/09636897211060269
- By:
- 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
- By:
- Publication type:
- Article
2168 – A novel mutation of the alpha galactosidase gene linked with fabry disease and therapy-resistant depression.
- Published in:
- 2013
- By:
- Publication type:
- Abstract
Humoral Immune Response to SARS-CoV-2 Vaccination after a Booster Vaccine Dose in Two Kidney Transplant Recipients with Fabry Disease and Variable Secondary Immunosuppressive Regimens.
- Published in:
- 2021
- By:
- Publication type:
- Case Study
Arterial involvement in Fabry disease: state of the art and future diagnostic purposes.
- Published in:
- European Review for Medical & Pharmacological Sciences, 2021, v. 25, n. 2, p. 845
- By:
- Publication type:
- Article
CT and MR Imaging of Cardiomyopathies in Clinical Practice–An Approach After an Abnormal Echocardiogram or Electrocardiogram.
- Published in:
- Echocardiography, 2025, v. 42, n. 2, p. 1, doi. 10.1111/echo.70104
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- Publication type:
- Article
Incidentally identified left ventricular apical aneurysm in a patient with Fabry disease.
- Published in:
- Echocardiography, 2022, v. 39, n. 8, p. 1131, doi. 10.1111/echo.15412
- By:
- Publication type:
- Article
An unusual case of mitral valve chordal rupture.
- Published in:
- Echocardiography, 2021, v. 38, n. 12, p. 2109, doi. 10.1111/echo.15228
- By:
- Publication type:
- Article
Comparative analysis of phasic left atrial strain and left ventricular posterolateral strain pattern to discriminate Fabry cardiomyopathy from other forms of left ventricular hypertrophy.
- Published in:
- Echocardiography, 2021, v. 38, n. 11, p. 1870, doi. 10.1111/echo.15224
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- Publication type:
- Article
Pulse‐cancellation echocardiography in Fabry disease diagnosis.
- Published in:
- Echocardiography, 2020, v. 37, n. 6, p. 908, doi. 10.1111/echo.14707
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- Publication type:
- Article
Mechanical dispersion in Fabry disease assessed with speckle tracking echocardiography.
- Published in:
- Echocardiography, 2020, v. 37, n. 2, p. 293, doi. 10.1111/echo.14592
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- Publication type:
- Article
Echocardiographic features of Fabry cardiomyopathy—Comparison with hypertrophy‐matched sarcomeric hypertrophic cardiomyopathy.
- Published in:
- Echocardiography, 2019, v. 36, n. 11, p. 2041, doi. 10.1111/echo.14508
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- Publication type:
- Article
Layer‐specific longitudinal strain in Anderson–Fabry disease at diagnosis: A speckle tracking echocardiography analysis.
- Published in:
- Echocardiography, 2019, v. 36, n. 7, p. 1273, doi. 10.1111/echo.14399
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- Publication type:
- Article
Comparison of echocardiographic parameters in Fabry cardiomyopathy and light‐chain cardiac amyloidosis.
- Published in:
- Echocardiography, 2018, v. 35, n. 11, p. 1755, doi. 10.1111/echo.14144
- By:
- Publication type:
- Article
Simplified apical four‐chamber view evaluation of relative apical sparing of longitudinal strain in diagnosing AL amyloid cardiomyopathy.
- Published in:
- Echocardiography, 2018, v. 35, n. 11, p. 1764, doi. 10.1111/echo.14132
- By:
- Publication type:
- Article
Comparison of left atrial size and function in hypertrophic cardiomyopathy and in Fabry disease with left ventricular hypertrophy.
- Published in:
- Echocardiography, 2018, v. 35, n. 5, p. 643, doi. 10.1111/echo.13829
- By:
- Publication type:
- Article
Loss of base-to-apex circumferential strain gradient: A specific pattern of Fabry cardiomyopathy?
- Published in:
- Echocardiography, 2017, v. 34, n. 4, p. 504, doi. 10.1111/echo.13496
- By:
- Publication type:
- Article
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
- By:
- 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
- By:
- Publication type:
- Article
Cerebral Hemodynamic Changes to Transcranial Doppler in Asymptomatic Patients with Fabry's Disease.
- Published in:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- Publication type:
- Article
Left Ventricular Hypertrophy: Etiology-Based Therapeutic Options.
- Published in:
- Cardiology & Therapy, 2022, v. 11, n. 2, p. 203, doi. 10.1007/s40119-022-00260-y
- By:
- Publication type:
- Article
Neuropsychiatric Symptoms and Their Association With Sex, Age, and Enzyme Replacement Therapy in Fabry Disease: A Systematic Review.
- Published in:
- Frontiers in Psychiatry, 2022, v. 13, p. 1, doi. 10.3389/fpsyt.2022.829128
- By:
- Publication type:
- Article
Novel GLA Mutation Promotes Intron Inclusion Leading to Fabry Disease.
- Published in:
- Frontiers in Genetics, 2019, p. 1, doi. 10.3389/fgene.2019.00783
- By:
- Publication type:
- Article
A Novel α-Galactosidase A Splicing Mutation Predisposes to Fabry Disease.
- Published in:
- Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2019.00060
- By:
- Publication type:
- Article
A Single Lung Transplant in a Patient with Fabry Disease: Causality or Far-Fetched? A Case Report.
- Published in:
- Case Reports in Transplantation, 2013, p. 1, doi. 10.1155/2013/905743
- By:
- Publication type:
- Article
Previously Unidentified Gene Variation Associated with Fabry Disease: The Impact on One Family.
- Published in:
- Case Reports in Nephrology, 2020, p. 1, doi. 10.1155/2020/8899703
- By:
- Publication type:
- Article
Impact of kidney biopsy on deciding when to initiate enzyme replacement therapy in children with Fabry disease.
- Published in:
- Pediatric Nephrology, 2024, v. 39, n. 1, p. 131, doi. 10.1007/s00467-023-06050-5
- By:
- Publication type:
- Article
Response to: Urine bikunin and kidney involvement in Fabry disease.
- Published in:
- 2022
- By:
- Publication type:
- Letter to the Editor
Urine bikunin and kidney involvement in Fabry disease.
- Published in:
- 2022
- By:
- Publication type:
- Letter
Fabry disease and kidney involvement: starting from childhood to understand the future.
- Published in:
- Pediatric Nephrology, 2022, v. 37, n. 1, p. 95, doi. 10.1007/s00467-021-05076-x
- By:
- Publication type:
- Article
Myelin bodies in LMX1B-associated nephropathy: potential for misdiagnosis.
- Published in:
- Pediatric Nephrology, 2020, v. 35, n. 9, p. 1647, doi. 10.1007/s00467-020-04564-w
- By:
- Publication type:
- Article
Clinical parameters, LysoGb3, podocyturia, and kidney biopsy in children with Fabry disease: is a correlation possible?
- Published in:
- Pediatric Nephrology, 2018, v. 33, n. 11, p. 2095, doi. 10.1007/s00467-018-4006-3
- By:
- Publication type:
- Article
Proteinuria in a male adolescent with hearing loss: Answers.
- Published in:
- 2018
- By:
- Publication type:
- Question & Answer
Orphan drug policies and use in pediatric nephrology.
- Published in:
- 2017
- By:
- Publication type:
- Editorial
Significant improvement in Fabry disease podocytopathy after 3 years of treatment with agalsidase beta.
- Published in:
- Pediatric Nephrology, 2016, v. 31, n. 8, p. 1369, doi. 10.1007/s00467-016-3387-4
- By:
- Publication type:
- Article
Lysosome dysfunction in the pathogenesis of kidney diseases.
- Published in:
- Pediatric Nephrology, 2014, v. 29, n. 12, p. 2253, doi. 10.1007/s00467-013-2652-z
- By:
- Publication type:
- Article
Renal complications of Fabry disease in children.
- Published in:
- Pediatric Nephrology, 2013, v. 28, n. 5, p. 679, doi. 10.1007/s00467-012-2222-9
- By:
- Publication type:
- Article