Lista de obras - Markus Ries - Dominio Público Uruguay

A cross-sectional quantitative analysis of the natural history of Farber disease: an ultra-orphan condition with rheumatologic and neurological cardinal disease features

artículo científico publicado en 2017

A cross-sectional quantitative analysis of the natural history of free sialic acid storage disease-an ultra-orphan multisystemic lysosomal storage disorder

scientific article published on 06 June 2018

A prospective 10-year study of individualized, intensified enzyme replacement therapy in advanced Fabry disease

scientific article published on 22 April 2015

Agalsidase alfa and kidney dysfunction in Fabry disease.

artículo científico publicado en 2009

An Assessment of Publication Status of Pediatric Liver Transplantation Studies

artículo científico publicado en 2016

Anderson-Fabry disease in children and adolescents

scientific article published on 01 January 2001

Angiokeratoma and pain, but not Fabry's disease: considerations for differential diagnosis

scientific article published on 01 January 2001

Apoptotic abnormalities in differential gene expression in peripheral blood mononuclear cells from children with Fabry disease.

artículo científico publicado en 2008

Cardiac involvement in Anderson-Fabry disease.

artículo científico publicado en 2002

Cardiac manifestations of Anderson-Fabry disease in heterozygous females

artículo científico publicado en 2002

Challenging behavior in mucopolysaccharidoses types I-III and day-to-day coping strategies: a cross sectional explorative study

artículo científico publicado en 2020

Clinical Trials on Diabetic Nephropathy: A Cross-Sectional Analysis

scientific article published on 07 January 2019

Clinical characteristics of 248 patients with Krabbe disease: quantitative natural history modeling based on published cases

scientific article published on 22 March 2019

Clinical manifestation in female Fabry disease patients

artículo científico publicado en 2001

Cognitive and Behavioral Consequences of Pediatric Delirium: A Pilot Study

scientific article published on 01 October 2018

Corrigendum: Quantitative clinical characteristics of 53 patients with MPS VII: a cross-sectional analysis

artículo científico publicado en 2017

Critical appraisal of genotype assessment in molybdenum cofactor deficiency

artículo científico publicado en 2017

Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis of children with Gaucher disease and Niemann-Pick disease type A/B and C

artículo científico publicado en 2006

Cross-sectional analysis on publication status and age representation of clinical studies addressing mechanical ventilation and ventilator-induced lung injury in infants and children

scientific article published on 18 November 2018

Cross-sectional quantitative analysis of the natural history of TUBA1A and TUBB2B tubulinopathies

artículo científico publicado en 2020

De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy

artículo científico publicado en 2020

Decision-making in acute viral bronchiolitis: A universal guideline and a publication gap

artículo científico publicado en 2020

Disasters in Germany and France: An Analysis of the Emergency Events Database From a Pediatric Perspective

scientific article published on 01 December 2019

Disease awareness or subtle product placement? Orphan diseases featured in the television series "House, M.D." - a cross-sectional analysis

scientific article published on 14 March 2020

Disease manifestations and X inactivation in heterozygous females with Fabry disease

artículo científico publicado en 2006

Enzyme replacement in Fabry disease: pharmacokinetics and pharmacodynamics of agalsidase alpha in children and adolescents

artículo científico publicado en 2007

Enzyme replacement therapy and beyond-in memoriam Roscoe O. Brady, M.D. (1923-2016).

artículo científico publicado en 2017

Enzyme replacement therapy and intraepidermal innervation density in Fabry disease

artículo científico publicado en 2006

Enzyme replacement therapy in orphan and ultra-orphan diseases: the limitations of standard economic metrics as exemplified by Fabry-Anderson disease.

artículo científico publicado en 2007

Enzyme replacement therapy with agalsidase alfa in patients with Fabry's disease: an analysis of registry data

artículo científico publicado en 2009

Enzyme-replacement therapy with agalsidase alfa in children with Fabry disease

artículo científico publicado en 2006

FDA orphan drug designations for lysosomal storage disorders - a cross-sectional analysis

scientific article published on 08 April 2020

Fabry Disease: A Disorder of Childhood Onset

artículo científico publicado en 2016

Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey

artículo científico publicado en 2004

Fabry disease: angiokeratoma, biomarker, and the effect of enzyme replacement therapy on kidney function

artículo científico publicado en 2005

Fabry's disease--an important risk factor for stroke

artículo científico publicado en 2005

Four-year prospective clinical trial of agalsidase alfa in children with Fabry disease

artículo científico publicado en 2010

Genotype–phenotype correlation in Fabry disease

Intuitive Global Insight Into COVID-19 Clinical Research Activities-The "COVID-19 Map of Hope"

scientific article published on 21 May 2020

Long-term therapy with agalsidase alfa for Fabry disease: safety and effects on renal function in a home infusion setting

artículo científico publicado en 2005

Myeloperoxidase predicts risk of vasculopathic events in hemizgygous males with Fabry disease.

artículo científico publicado en 2006

Neurological manifestation of Fabry disease in females

scientific article published on 01 January 2001

Neuropathic and cerebrovascular correlates of hearing loss in Fabry disease

artículo científico publicado en 2006

Novel Treatments for Rare Cancers: The U.S. Orphan Drug Act Is Delivering-A Cross-Sectional Analysis.

artículo científico publicado en 2016

Parapelvic kidney cysts: a distinguishing feature with high prevalence in Fabry disease

artículo científico publicado en 2004

Pathological findings in a patient with Fabry disease who died after 2.5 years of enzyme replacement

artículo científico publicado en 2005

Pressure for drug development in lysosomal storage disorders - a quantitative analysis thirty years beyond the US orphan drug act

artículo científico publicado en 2015

Proteomics of specific treatment-related alterations in Fabry disease: a strategy to identify biological abnormalities.

artículo científico publicado en 2007

Public Health Leadership in a VUCA World Environment: Lessons Learned during the Regional Emergency Rollout of SARS-CoV-2 Vaccinations in Heidelberg, Germany, during the COVID-19 Pandemic

artículo científico publicado en 2021

Publication bias in pediatric emergence delirium: a cross-sectional analysis of ClinicalTrials.gov and ClinicalTrialsRegister.eu

scientific article published on 15 October 2020

Publication status of completed registered studies in paediatric appendicitis: a cross-sectional analysis

artículo científico publicado en 2018

Punctate calcifications in lysosomal storage disorders

scientific article published on 01 July 2009

Quantitative clinical characteristics of 53 patients with MPS VII: a cross-sectional analysis

artículo científico publicado en 2017

Quantitative dysmorphology assessment in Fabry disease

artículo científico publicado en 2006

Quantitative natural history characterization in a cohort of 142 published cases of patients with galactosialidosis-A cross-sectional study

scientific article published on 28 January 2019

Quantitative retrospective natural history modeling for orphan drug development

scientific article published on 26 August 2020

Quantitative retrospective natural history modeling of <i>WDR45</i>-related developmental and epileptic encephalopathy – a systematic cross-sectional analysis of 160 published cases

artículo científico publicado en 2021

Randomized, controlled trial of miglustat in Gaucher's disease type 3.

artículo científico publicado en 2008

Screening for respiratory syncytial virus and isolation strategies in children hospitalized with acute respiratory tract infection

artículo científico publicado en 2014

Skin-impedance in Fabry Disease: a prospective, controlled, non-randomized clinical study

artículo científico publicado en 2008

Ten Years after the International Committee of Medical Journal Editors' Clinical Trial Registration Initiative, One Quarter of Phase 3 Pediatric Epilepsy Clinical Trials Still Remain Unpublished: A Cross Sectional Analysis

artículo científico publicado en 2016

The Mainz Severity Score Index: a new instrument for quantifying the Anderson-Fabry disease phenotype, and the response of patients to enzyme replacement therapy

artículo científico publicado en 2004

The drug development pipeline for glioblastoma-A cross sectional assessment of the FDA Orphan Drug Product designation database

artículo científico publicado en 2021

The early clinical phenotype of Fabry disease: a study on 35 European children and adolescents.

artículo científico publicado en 2003

The relationship of vascular glycolipid storage to clinical manifestations of Fabry disease: a cross-sectional study of a large cohort of clinically affected heterozygous women

artículo científico publicado en 2005

The saccadic and neurological deficits in type 3 Gaucher disease

artículo científico publicado en 2011

Thirty Years of Orphan Drug Legislation and the Development of Drugs to Treat Rare Seizure Conditions: A Cross Sectional Analysis

artículo científico publicado en 2016

Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease

artículo científico publicado en 2005

Ultra-orphan diseases: a quantitative analysis of the natural history of molybdenum cofactor deficiency.

artículo científico publicado en 2015

Ultra-orphan lysosomal storage diseases: A cross-sectional quantitative analysis of the natural history of alpha-mannosidosis

scientific article published on 24 July 2019

Use of gabapentin to reduce chronic neuropathic pain in Fabry disease

artículo científico publicado en 2003

Weekly enzyme replacement therapy may slow decline of renal function in patients with Fabry disease who are on long-term biweekly dosing.

artículo científico publicado en 2007

Lista de obras de Markus Ries

A cross-sectional quantitative analysis of the natural history of Farber disease: an ultra-orphan condition with rheumatologic and neurological cardinal disease features

A cross-sectional quantitative analysis of the natural history of free sialic acid storage disease-an ultra-orphan multisystemic lysosomal storage disorder

A prospective 10-year study of individualized, intensified enzyme replacement therapy in advanced Fabry disease

Agalsidase alfa and kidney dysfunction in Fabry disease.

An Assessment of Publication Status of Pediatric Liver Transplantation Studies

Anderson-Fabry disease in children and adolescents

Angiokeratoma and pain, but not Fabry's disease: considerations for differential diagnosis

Apoptotic abnormalities in differential gene expression in peripheral blood mononuclear cells from children with Fabry disease.

Cardiac involvement in Anderson-Fabry disease.

Cardiac manifestations of Anderson-Fabry disease in heterozygous females

Challenging behavior in mucopolysaccharidoses types I-III and day-to-day coping strategies: a cross sectional explorative study

Clinical Trials on Diabetic Nephropathy: A Cross-Sectional Analysis

Clinical characteristics of 248 patients with Krabbe disease: quantitative natural history modeling based on published cases

Clinical manifestation in female Fabry disease patients

Cognitive and Behavioral Consequences of Pediatric Delirium: A Pilot Study

Corrigendum: Quantitative clinical characteristics of 53 patients with MPS VII: a cross-sectional analysis

Critical appraisal of genotype assessment in molybdenum cofactor deficiency

Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis of children with Gaucher disease and Niemann-Pick disease type A/B and C

Cross-sectional analysis on publication status and age representation of clinical studies addressing mechanical ventilation and ventilator-induced lung injury in infants and children

Cross-sectional quantitative analysis of the natural history of TUBA1A and TUBB2B tubulinopathies

De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy

Decision-making in acute viral bronchiolitis: A universal guideline and a publication gap

Disasters in Germany and France: An Analysis of the Emergency Events Database From a Pediatric Perspective

Disease awareness or subtle product placement? Orphan diseases featured in the television series "House, M.D." - a cross-sectional analysis

Disease manifestations and X inactivation in heterozygous females with Fabry disease

Enzyme replacement in Fabry disease: pharmacokinetics and pharmacodynamics of agalsidase alpha in children and adolescents

Enzyme replacement therapy and beyond-in memoriam Roscoe O. Brady, M.D. (1923-2016).

Enzyme replacement therapy and intraepidermal innervation density in Fabry disease

Enzyme replacement therapy in orphan and ultra-orphan diseases: the limitations of standard economic metrics as exemplified by Fabry-Anderson disease.

Enzyme replacement therapy with agalsidase alfa in patients with Fabry's disease: an analysis of registry data

Enzyme-replacement therapy with agalsidase alfa in children with Fabry disease

FDA orphan drug designations for lysosomal storage disorders - a cross-sectional analysis

Fabry Disease: A Disorder of Childhood Onset

Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey

Fabry disease: angiokeratoma, biomarker, and the effect of enzyme replacement therapy on kidney function

Fabry's disease--an important risk factor for stroke

Four-year prospective clinical trial of agalsidase alfa in children with Fabry disease

Genotype–phenotype correlation in Fabry disease

Intuitive Global Insight Into COVID-19 Clinical Research Activities-The "COVID-19 Map of Hope"

Long-term therapy with agalsidase alfa for Fabry disease: safety and effects on renal function in a home infusion setting

Myeloperoxidase predicts risk of vasculopathic events in hemizgygous males with Fabry disease.

Neurological manifestation of Fabry disease in females

Neuropathic and cerebrovascular correlates of hearing loss in Fabry disease

Novel Treatments for Rare Cancers: The U.S. Orphan Drug Act Is Delivering-A Cross-Sectional Analysis.

Parapelvic kidney cysts: a distinguishing feature with high prevalence in Fabry disease

Pathological findings in a patient with Fabry disease who died after 2.5 years of enzyme replacement

Pressure for drug development in lysosomal storage disorders - a quantitative analysis thirty years beyond the US orphan drug act

Proteomics of specific treatment-related alterations in Fabry disease: a strategy to identify biological abnormalities.

Public Health Leadership in a VUCA World Environment: Lessons Learned during the Regional Emergency Rollout of SARS-CoV-2 Vaccinations in Heidelberg, Germany, during the COVID-19 Pandemic

Publication bias in pediatric emergence delirium: a cross-sectional analysis of ClinicalTrials.gov and ClinicalTrialsRegister.eu

Publication status of completed registered studies in paediatric appendicitis: a cross-sectional analysis

Punctate calcifications in lysosomal storage disorders

Quantitative clinical characteristics of 53 patients with MPS VII: a cross-sectional analysis

Quantitative dysmorphology assessment in Fabry disease

Quantitative natural history characterization in a cohort of 142 published cases of patients with galactosialidosis-A cross-sectional study

Quantitative retrospective natural history modeling for orphan drug development

Quantitative retrospective natural history modeling of <i>WDR45</i>-related developmental and epileptic encephalopathy – a systematic cross-sectional analysis of 160 published cases

Randomized, controlled trial of miglustat in Gaucher's disease type 3.

Screening for respiratory syncytial virus and isolation strategies in children hospitalized with acute respiratory tract infection

Skin-impedance in Fabry Disease: a prospective, controlled, non-randomized clinical study

Ten Years after the International Committee of Medical Journal Editors' Clinical Trial Registration Initiative, One Quarter of Phase 3 Pediatric Epilepsy Clinical Trials Still Remain Unpublished: A Cross Sectional Analysis

The Mainz Severity Score Index: a new instrument for quantifying the Anderson-Fabry disease phenotype, and the response of patients to enzyme replacement therapy

The drug development pipeline for glioblastoma-A cross sectional assessment of the FDA Orphan Drug Product designation database

The early clinical phenotype of Fabry disease: a study on 35 European children and adolescents.

The relationship of vascular glycolipid storage to clinical manifestations of Fabry disease: a cross-sectional study of a large cohort of clinically affected heterozygous women

The saccadic and neurological deficits in type 3 Gaucher disease

Thirty Years of Orphan Drug Legislation and the Development of Drugs to Treat Rare Seizure Conditions: A Cross Sectional Analysis

Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease

Ultra-orphan diseases: a quantitative analysis of the natural history of molybdenum cofactor deficiency.

Ultra-orphan lysosomal storage diseases: A cross-sectional quantitative analysis of the natural history of alpha-mannosidosis

Use of gabapentin to reduce chronic neuropathic pain in Fabry disease

Weekly enzyme replacement therapy may slow decline of renal function in patients with Fabry disease who are on long-term biweekly dosing.