Search filters

List of works by 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

scientific article

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.

scientific article published on 08 April 2009

An Assessment of Publication Status of Pediatric Liver Transplantation Studies

scientific article

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.

scientific article published in April 2008

Cardiac involvement in Anderson-Fabry disease.

scientific article

Cardiac manifestations of Anderson-Fabry disease in heterozygous females

scientific article published in November 2002

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

scientific article published on 02 October 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

scientific article published on 01 January 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

correction of a scholarly article

Critical appraisal of genotype assessment in molybdenum cofactor deficiency

scientific article

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

scientific article published on 27 July 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

scientific article published on 21 October 2020

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

scientific article published on 01 November 2020

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

scientific article published on 18 August 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

scientific article published in April 2006

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

scientific article published on 13 August 2007

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

scientific article

Enzyme replacement therapy and intraepidermal innervation density in Fabry disease

scientific article

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

scientific article published in January 2007

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

scientific article

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

scientific article published in September 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

scientific article

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

scientific article published in March 2004

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

scientific article published on 01 July 2005

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

scientific article published in November 2005

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

scientific article published on 25 January 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

scientific article

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

scientific article

Neurological manifestation of Fabry disease in females

scientific article published on 01 January 2001

Neuropathic and cerebrovascular correlates of hearing loss in Fabry disease

scientific article

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

scientific article published on 28 March 2016

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

scientific article published in September 2004

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

scientific article published on 29 November 2005

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

scientific article published on 18 April 2015

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

scholarly article

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

scientific article published on 11 August 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

scientific article published on 16 July 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

scientific article published on 6 April 2017

Quantitative dysmorphology assessment in Fabry disease

scientific article published in February 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

scientific article published on 24 November 2021

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 6 January 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

scientific article published in April 2004

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

scientific article published on 07 July 2021

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

scientific article published on 20 September 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

scientific article

The saccadic and neurological deficits in type 3 Gaucher disease

scientific article

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

scientific article

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

scientific article published on 01 April 2005

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

scientific article published on 12 March 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

scientific article published in January 2003

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

scientific article

Paulina is supported by:

About Paulina

Help