Pediatric Fabry Disease

No abstract is available for this paper.

• Publication year

  2005

• Venue

  Pediatrics

• Publication date

  2005-03-01

• Fields of study

  Medicine

• Identifiers
  DOI 10.1542/peds.2004-1678PMID 15713906
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• CNS involvement in Fabry disease: Clinical and imaging studies before and after 12 months of enzyme replacement therapy

  2004cited by this paper
• Ascorbate decreases Fabry cerebral hyperperfusion suggesting a reactive oxygen species abnormality: An arterial spin tagging study

  2004cited by this paper
• Long-term safety and efficacy of enzyme replacement therapy for Fabry disease.

  2004cited by this paper
• Parapelvic kidney cysts: a distinguishing feature with high prevalence in Fabry disease.

  2004cited by this paper
• The molecular defect leading to Fabry disease: structure of human alpha-galactosidase.

  2004cited by this paper
• Clinical benefit in Fabry patients given enzyme replacement therapy—A case series

  2004cited by this paper
• Enzyme replacement therapy improves peripheral nerve and sweat function in Fabry disease

  2003cited by this paper
• The early clinical phenotype of Fabry disease: a study on 35 European children and adolescents

  2003cited by this paper
• Cell-based screening of active-site specific chaperone for the treatment of Fabry disease.

  2003cited by this paper
• Improvement of Cardiac Function During Enzyme Replacement Therapy in Patients With Fabry Disease: A Prospective Strain Rate Imaging Study

  2003cited by this paper
• Use of gabapentin to reduce chronic neuropathic pain in Fabry disease

  2003cited by this paper
• Predicting GFR in children and adults: a comparison of the Cockcroft-Gault, Schwartz, and modification of diet in renal disease formulas.

  2003cited by this paper
• Natural History of Fabry Renal Disease: Influence of α-Galactosidase A Activity and Genetic Mutations on Clinical Course

  2002cited by this paper
• Renal ultrastructural findings in Anderson-Fabry disease.

  2002cited by this paper
• Renal pathology in Fabry disease.

  2002cited by this paper
• Prevalence and trends in overweight among US children and adolescents, 1999-2000.

  2002cited by this paper
• Safety and efficacy of recombinant human alpha-galactosidase A replacement therapy in Fabry's disease.

  2001cited by this paper
• Natural history of Fabry disease in males: preliminary observations

  2001cited by this paper
• Anderson–Fabry disease: Clinical manifestations of disease in female heterozygotes

  2001cited by this paper
• Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males

  2001cited by this paper
• Angiokeratoma and pain, but not Fabry's disease: considerations for differential diagnosis.

  2001cited by this paper
• Enzyme replacement therapy in Fabry disease: a randomized controlled trial.

  2001cited by this paper
• A Case of Angiokeratoma

  2001cited by this paper
• Safety and efficacy of recombinant human alpha-galactosidase a replacement therapy in Fabry's disease

  2001cited by this paper
• SAFETY AND EFFICACY OF RECOMBINANT HUMAN a -GALACTOSIDASE A REPLACEMENT THERAPY IN FABRY'S DISEASE

  2001cited by this paper
• Infusion of α-galactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry disease

  2000cited by this paper
• A simplified equation to predict glomerular filtration rate from serum creatinine

  2000cited by this paper
• Infusion of alpha-galactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry disease.

  2000cited by this paper
• Normal values of M mode echocardiographic measurements of more than 2000 healthy infants and children in central Europe

  2000cited by this paper
• Hypertension-induced cardiac damage in children and adolescents.

  1999cited by this paper
• Interaction between body size and cardiac workload: influence on left ventricular mass during body growth and adulthood.

  1998cited by this paper
• Crystallography & NMR system: A new software suite for macromolecular structure determination.

  1998cited by this paper
• Functional status and well-being of children representing three cultural groups: Initial self-reports using the chq-cf87

  1997cited by this paper
• Effect of growth on variability of left ventricular mass: assessment of allometric signals in adults and children and their capacity to predict cardiovascular risk.

  1995cited by this paper
• Guidelines for overweight in adolescent preventive services: recommendations from an expert committee. The Expert Committee on Clinical Guidelines for Overweight in Adolescent Preventive Services.

  1994cited by this paper
• Possible thyroidal involvement in a case of Fabry disease.

  1994cited by this paper
• Patterns of left ventricular hypertrophy and geometric remodeling in essential hypertension.

  1992cited by this paper
• Left ventricular mass and body size in normotensive children and adults: assessment of allometric relations and impact of overweight.

  1992cited by this paper
• A program to produce both detailed and schematic plots of protein structures

  1991cited by this paper
• Recommendations for quantitation of the left ventricle by two-dimensional echocardiography. American Society of Echocardiography Committee on Standards, Subcommittee on Quantitation of Two-Dimensional Echocardiograms.

  1989cited by this paper
• Color Doppler assessment of mitral regurgitation with orthogonal planes.

  1987cited by this paper
• Evaluation of aortic insufficiency by Doppler color flow mapping.

  1987cited by this paper
• Echocardiographic assessment of left ventricular hypertrophy: comparison to necropsy findings.

  1986cited by this paper
• Involvement of dorsal root ganglia in Fabry's disease.

  1983cited by this paper
• Pathophysiologic and ultrastructural basis for intestinal symptoms in Fabry's disease.

  1982cited by this paper
• [Fabry's disease without cutaneous angiokeratoma: diagnosis by electron microscope study of skin biopsy (author's transl)].

  1981cited by this paper
• [Fabry's disease with malocclusion and acromegalic-appearance: clinical and electromicroscopic studies (author's transl)].

  1980cited by this paper
• [Fabry disease: clinical, biochemical and electron microscopical studies (author's transl)].

  1979cited by this paper
• [Fabry's disease. Carbamazepine therapy in acrodyniform syndrome].

  1977cited by this paper
• A simple estimate of glomerular filtration rate in children derived from body length and plasma creatinine.

  1976cited by this paper
• Carbamazepine for painful crises in Fabry's disease.

  1973cited by this paper
• Enzymatic defect in Fabry's disease. Ceramidetrihexosidase deficiency.

  1967cited by this paper
• Ein Beitrag zur Kenntniss der Purpura haemorrhagica nodularis (Purpura papulosa haemorrhagica Hebrae)

  1898cited by this paper

• Case Report: Novel GLA mutation in a Chinese female with renal-predominant Fabry disease and cardiac hypertrophy

  2026cites this paper
• Unraveling the Hidden Burden of Gastrointestinal and Nutritional Challenges in Children with Fabry Disease: A Systematic Review with Meta-Analysis

  2025influential citation
• Health-related Quality of Life among Children Living with Rare Diseases in China: a Nationwide Study

  2025cites this paper
• Safety and efficacy of migalastat in adolescent patients with Fabry disease: Results from ASPIRE, a phase 3b, open-label, single-arm, 12-month clinical trial, and its open-label extension.

  2025cites this paper
• Cryo-ablation management of atrial fibrillation in Fabry disease without agalsidase alpha: a case report

  2025cites this paper
• Impact of enzyme replacement therapy on hearing sensitivity in Fabry disease: A systematic review.

  2025cites this paper
• Experience with cascade screening: A comprehensive family pedigree analysis of two index patients with Fabry disease

  2024cites this paper
• A systematic literature review on the health-related quality of life and economic burden of Fabry disease

  2024cites this paper
• Biomarkers in anderson-Fabry disease: what should we use in the clinical practice?

  2024cites this paper
• Fabry disease: current treatment and future perspective

  2023cites this paper
• Clinical features and enzyme replacement therapy in 10 children with Fabry disease

  2023cites this paper
• MURPHREE FESTSCHRIFT: RESEARCH REPORT Visual outcome, ocular findings, and visual quality of life in patients with Fabry disease

  2023cites this paper
• Impact of kidney biopsy on deciding when to initiate enzyme replacement therapy in children with Fabry disease

  2023cites this paper
• Screening of Fabry Disease of patients in renal replacement therapy in a population from Lazio (Italy).

  2023cites this paper
• Fabry Disease in Women: Genetic Basis, Available Biomarkers, and Clinical Manifestations

  2023cites this paper
• Clinical Characteristics, Renal Involvement, and Therapeutic Options of Pediatric Patients With Fabry Disease

  2022cites this paper
• An Overview of Molecular Mechanisms in Fabry Disease

  2022cites this paper
• Generation of an in vitro model for peripheral neuropathy in Fabry disease using CRISPR-Cas9 in the nociceptive dorsal root ganglion cell line 50B11

  2022cites this paper
• Translation of quality of life scale for pediatric patients with Fabry disease in Japan

  2022cites this paper
• The Benefits of Early versus Late Therapeutic Intervention in Fabry Disease

  2022cites this paper
• Expert opinion on the recognition, diagnosis and management of children and adults with Fabry disease: a multidisciplinary Turkey perspective

  2022cites this paper
• Gene Therapy for Pediatric Neurologic Disease.

  2022cites this paper
• Sympathetic skin response, cutaneous silent period and nociceptive flexion reflex in Fabry disease

  2022cites this paper
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  2022cites this paper
• Apresentação pediátrica da doença de Fabry: sintomas comuns levando ao diagnóstico de uma doença rara

  2021cites this paper
• Giant axonal neuropathy: cross sectional analysis of a large natural history cohort.

  2021cites this paper
• Left to themselves: Time to Target Chronic Pain in Childhood Rare Diseases.

  2021cites this paper
• Fabry disease pain: patient and preclinical parallels

  2020cites this paper
• Mosaic Fabry disease in a male presenting as hypertrophic cardiomyopathy: When enzyme levels are not enough

  2020cites this paper
• Biomarkers in Anderson–Fabry Disease

  2020cites this paper
• Longitudinal study on ocular manifestations in a cohort of patients with Fabry disease

  2019cites this paper
• Morbus Fabry - skin and soft‑tissue manifestations

  2019cites this paper
• Fabry patients' perspectives on multidisciplinary clinics

  2019cites this paper
• Ultra‐orphan lysosomal storage diseases: A cross‐sectional quantitative analysis of the natural history of alpha‐mannosidosis

  2019cites this paper
• Variable phenotypic presentations of renal involvement in Fabry disease: a case series

  2018cites this paper
• Patient and observer reported outcome measures to evaluate health-related quality of life in inherited metabolic diseases: a scoping review

  2018cites this paper
• Improvement of Fabry Disease-Related Gastrointestinal Symptoms in a Significant Proportion of Female Patients Treated with Agalsidase Beta: Data from the Fabry Registry.

  2018cites this paper
• JIMD Reports, Volume 38

  2018cites this paper
• Early markers of heart and kidney damage in Fabry disease

  2018cites this paper
• NEW INSIGHTS INTO RARE METABOLIC DISEASES IN PAEDIATRIC PRACTICE

  2018cites this paper
• Arrhythmia and Clinical Cardiac Findings in Children With Anderson-Fabry Disease.

  2017cites this paper
• Generierung eines Drosophila melanogaster Modellsystems für die lysosomale Speicherkrankheit Morbus Fabry

  2017cites this paper
• A Survey of the pain experienced and pain reliever from bench to bedsides

  2017cites this paper
• Enzyme replacement therapy in Fabry disease, towards individualized treatment

  2017cites this paper
• Genetic Screening of Mutations Associated with Fabry Disease in a Nationwide Cohort of Juvenile Idiopathic Arthritis Patients

  2017influential citation
• Enzyme replacement therapy in paediatric patients affected by Anderson-Fabry disease leads to improvement in arterial elasticity, but not normalization

  2017cites this paper
• Potential Modifications to Enzyme Replacement Therapy in Anderson-Fabry Disease

  2017cites this paper
• The Liver in Metabolic Disease

  2017cites this paper
• Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study.

  2017cites this paper
• Enzyme replacement therapy and beyond—in memoriam Roscoe O. Brady, M.D. (1923–2016)

  2017cites this paper
• Fabry disease in children: a federal screening programme in Russia

  2017cites this paper
• 5th Update on Fabry Nephropathy: Biomarkers, Progression and Treatment Opportunities. April 25-27, 2017, Mexico City, Mexico: Abstracts

  2017cites this paper
• Spectrum of migraine variants and beyond: The individual syndromes in children.

  2016cites this paper
• Review article Spectrum of migraine variants and beyond: The individual syndromes in children q

  2016cites this paper
• Paediatric Fabry disease: prognostic significance of ocular changes for disease severity

  2016cites this paper
• Dermatologic Aspects of Fabry Disease

  2016cites this paper
• Premio Bienal FABA/FBA 2014

  2016cites this paper
• NEUROLOGICAL COMPLICATION OF ANDERSON-FABRY DISEASE AND IMPACT OF ENZYME REPLACEMENT

  2016cites this paper
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  2016cites this paper
• Genetic Disorders with Dyshidrosis: Ectodermal Dysplasia, Incontinentia Pigmenti, Fabry Disease, and Congenital Insensitivity to Pain with Anhidrosis.

  2016cites this paper
• Fabry Disease: A Disorder of Childhood Onset.

  2016cites this paper
• Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.

  2016cites this paper
• An open-label clinical trial of agalsidase alfa enzyme replacement therapy in children with Fabry disease who are naïve to enzyme replacement therapy

  2016cites this paper
• Fabry’s disease: an example of cardiorenal syndrome type 5

  2015cites this paper
• Quality of life in patients with Fabry disease: a systematic review of the literature

  2015cites this paper
• Cornea verticillata supports a diagnosis of Fabry disease in non-classical phenotypes: results from the Dutch cohort and a systematic review

  2015cites this paper
• Characterization of Early Disease Status in Treatment-Naive Male Paediatric Patients with Fabry Disease Enrolled in a Randomized Clinical Trial

  2015cites this paper
• Pressure for drug development in lysosomal storage disorders – a quantitative analysis thirty years beyond the US orphan drug act

  2015cites this paper
• A prospective 10-year study of individualized, intensified enzyme replacement therapy in advanced Fabry disease

  2015cites this paper
• UvA-DARE ( Digital Academic Repository ) Fabry or not Fabry : From genetics to diagnosis

  2015cites this paper
• A Review of Current and Future Treatment Strategies for Fabry Disease : A Model for Treating Lysosomal Storage Diseases

  2015cites this paper
• Fabry or not Fabry: From genetics to diagnosis

  2015cites this paper
• Carboxyl-Terminal Truncations Alter the Activity of the Human α-Galactosidase A

  2015cites this paper
• Age at First Cardiac Symptoms in Fabry Disease: Association with a Chinese Hotspot Fabry Mutation (IVS4+919G>A), Classical Fabry Mutations, and Sex in a Taiwanese Population from the Fabry Outcome Survey (FOS).

  2015cites this paper
• Fabry disease.

  2015cites this paper
• Uncertain diagnosis of Fabry disease: consensus recommendation on diagnosis in adults with left ventricular hypertrophy and genetic variants of unknown significance.

  2014cites this paper
• The Liver in Metabolic Disease

  2014cites this paper
• Enfoque simplificado para el diagnóstico de enfermedades lisosomales en niños (Simplified diagnostic approach in the lysosomal storage diseases in children)

  2014cites this paper
• Fabry disease in infancy and early childhood: a systematic literature review

  2014cites this paper
• Characterization of Pain in Fabry Disease

  2014cites this paper
• De novo mutation in a male patient with Fabry disease: a case report

  2014cites this paper
• Assessing health beliefs of women diagnosed and at-risk for Fabry disease

  2014cites this paper
• Angioqueratoma como marcador para o diagnóstico de doença de Fabry

  2013cites this paper
• Fabry Disease: A Review of Ophthalmic and Systemic Manifestations

  2013cites this paper
• Females and children with Anderson–Fabry disease: diagnosis, monitoring, benefits of enzyme replacement therapy (ERT) and considerations on timing of starting ERT

  2013influential citation
• Anderson-Fabry, the histrionic disease: from genetics to clinical management

  2013cites this paper
• Fabry Disease Practice Guidelines: Recommendations of the National Society of Genetic Counselors

  2013cites this paper
• Anderson-Fabry disease in children.

  2013cites this paper
• Mucopolysaccharidoses and other lysosomal storage diseases.

  2013cites this paper
• Fabry disease in children: agalsidase‐beta enzyme replacement therapy

  2013cites this paper
• Can You Spare a Paradigm?'' Refining Patterns of Left Ventricular Hypertrophy Using Cardiac MRI : ''Brother,

  2013cites this paper
• Markers of nephropathy in young Fabry disease patients; role of kidney biopsies and functional measurements

  2013cites this paper
• Enzyme replacement therapy in two Japanese siblings with Fabry disease, and its effectiveness on angiokeratoma and neuropathic pain.

  2013cites this paper
• Neuropathic pain in children

  2013cites this paper
• Measuring patient experiences in Fabry disease: validation of the Fabry-specific Pediatric Health and Pain Questionnaire (FPHPQ)

  2012cites this paper
• Pharmacological chaperones for human α-N-acetylgalactosaminidase

  2012cites this paper
• Fabry disease ‘The New Great Imposter’: results of the French Observatoire in Internal Medicine Departments (FIMeD)

  2012cites this paper
• 13 Fabry Disease : A Metabolic Proteinuric Nephropathy

  2012cites this paper
• Urinary globotriaosylsphingosine-related biomarkers for Fabry disease targeted by metabolomics.

  2012cites this paper
• Fabry disease in children and response to enzyme replacement therapy: results from the Fabry Outcome Survey

  2012cites this paper