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List of works by Eugen Mengel

36 months observational clinical study of 38 adult Pompe disease patients under alglucosidase alfa enzyme replacement therapy

scientific article published on 31 January 2012

A 4-year study of the efficacy and tolerability of enzyme replacement therapy with agalsidase alfa in 36 women with Fabry disease

scientific article published in June 2009

A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency

scientific article

A Suspicion Index to aid screening of early-onset Niemann-Pick disease Type C (NP-C)

scientific article published on 22 July 2016

A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations ⬇️

scientific article published on June 7, 2012

A prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type B.

scientific article

A study on the safety and efficacy of reveglucosidase alfa in patients with late-onset Pompe disease

scientific article

A validated disease severity scoring system for Fabry disease

scientific article published on 30 October 2009

Acetyl-dl-leucine in Niemann-Pick type C: A case series

scientific article published on 23 September 2015

Altered distribution and function of natural killer cells in murine and human Niemann-Pick disease type C1.

scientific article

Annual severity increment score as a tool for stratifying patients with Niemann-Pick disease type C and for recruitment to clinical trials

Cardiac manifestations of Anderson-Fabry disease in children and adolescents

scientific article

Chronic diarrhea in a 5-year-old girl: pitfall in routine laboratory testing with potentially severe consequences.

scientific article published in May 2009

Clinical characteristics of adults with slowly progressing mucopolysaccharidosis VI: a case series ⬇️

scientific article published on March 23, 2012

Correction: Disease and patient characteristics in NP-C patients: findings from an international disease registry

scientific article published on 14 May 2013

Craniocervical decompression in patients with mucopolysaccharidosis VI: development of a scoring system to determine indication and outcome of surgery

scientific article

Diagnostic efficacy of the fluorometric determination of enzyme activity for Pompe disease from dried blood specimens compared with lymphocytes-possibility for newborn screening

scientific article published on 23 December 2009

Differences in Niemann-Pick disease Type C symptomatology observed in patients of different ages

scientific article

Disease and patient characteristics in NP-C patients: findings from an international disease registry

scientific article published on 16 January 2013

Early access experience with VPRIV(®): recommendations for 'core data' collection.

scientific article published on 13 December 2010

Efficacy and outcome of expanded newborn screening for metabolic diseases - Report of 10 years from South-West Germany * ⬇️

scientific article published on June 20, 2011

Efficacy and safety of enzyme replacement therapy with BMN 110 (elosulfase alfa) for Morquio A syndrome (mucopolysaccharidosis IVA): a phase 3 randomised placebo-controlled study

scientific article

Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedure

scientific article

Exploring the patient journey to diagnosis of Gaucher disease from the perspective of 212 patients with Gaucher disease and 16 Gaucher expert physicians

scientific article published on 04 August 2017

Force majeure: therapeutic measures in response to restricted supply of imiglucerase (Cerezyme) for patients with Gaucher disease

scientific article published on 4 October 2009

Four-year follow-up of chronic neuronopathic Gaucher disease in Europeans using a modified severity scoring tool

scientific article published on 28 May 2011

Functional and genetic characterization of the non-lysosomal glucosylceramidase 2 as a modifier for Gaucher disease

scientific article published on 26 September 2013

Gastrointestinal disturbances and their management in miglustat‐treated patients ⬇️

scientific article published on July 21, 2011

Heart and Cardiovascular Involvement in Patients with Mucopolysaccharidosis Type IVA (Morquio-A Syndrome)

scientific article

Impact of elosulfase alfa in patients with morquio A syndrome who have limited ambulation: An open-label, phase 2 study.

scientific article

Invariant natural killer T cells are not affected by lysosomal storage in patients with Niemann-Pick disease type C.

scientific article

Lysosomal acid lipase deficiency: Expanding differential diagnosis

scientific article published on 10 November 2016

Lysosomal storage diseases as differential diagnoses to rheumatic disorders

scientific article published on January 2008

Lysosomal storage diseases as differential diagnosis of hepatosplenomegaly ⬇️

scientific article published on October 1, 2010

Lysosomal storage disorder in non-immunological hydrops fetalis (NIHF): more common than assumed? Report of four cases with transient NIHF and a review of the literature

scientific article

Management of Life-Threatening Tracheal Stenosis and Tracheomalacia in Patients with Mucopolysaccharidoses

scientific article

Mucopolysaccharidosis VI: cardiac involvement and the impact of enzyme replacement therapy

scientific article

Multi-domain impact of elosufase alfa in Morquio A syndrome in the pivotal phase III trial

scientific article

Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism

scientific article

Niemann-Pick Type C disease: characterizing lipid levels in patients with variant lysosomal cholesterol storage

scientific article published on 17 January 2011

Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicators

scientific article published on 22 February 2013

Niemann-Pick disease type C symptomatology: an expert-based clinical description

scientific article

Oculomotor and Vestibular Findings in Gaucher Disease Type 3 and Their Correlation with Neurological Findings

scientific article published in January 2017

Outcome of patients with classical infantile pompe disease receiving enzyme replacement therapy in Germany

scientific article

Paediatric non-neuronopathic Gaucher disease: recommendations for treatment and monitoring

scientific article published on 16 December 2003

Pediatric non-neuronopathic Gaucher disease: presentation, diagnosis and assessment. Consensus statements

scientific article

Peripheral neuropathy in adult type 1 Gaucher disease: a 2-year prospective observational study ⬇️

scientific article published on August 7, 2010

Plasma lysosphingomyelin demonstrates great potential as a diagnostic biomarker for Niemann-Pick disease type C in a retrospective study

scientific article

Psychiatric and neurological symptoms in patients with Niemann-Pick disease type C (NP-C): Findings from the International NPC Registry

scientific article published on 15 September 2017

Quantification of intramuscular fat in patients with late-onset Pompe disease by conventional magnetic resonance imaging for the long-term follow-up of enzyme replacement therapy

scientific article published on 9 January 2018

Recommendations on the diagnosis and management of Niemann-Pick disease type C.

scientific article published on 14 June 2009

Reduced cerebral fluoro-L-dopamine uptake in adult patients suffering from phenylketonuria

scientific article published on 31 October 2007

Relative acidic compartment volume as a lysosomal storage disorder-associated biomarker

scientific article published on March 2014

Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C: an observational cohort study

scientific article published on 28 May 2015

Survival and Developmental Milestones Among Pompe Registry Patients with Classic Infantile-Onset Pompe Disease with Different Timing of Initiation of Treatment with Enzyme Replacement Therapy

scientific article published in January 2015

Survival and developmental milestones among Pompe registry patients with classic infantile-onset Pompe disease with different timing of initiation of treatment with enzyme replacement therapy (ERT)

The management of pregnancy in Gaucher disease ⬇️

scientific article published on January 26, 2011

Treatment with pentosan polysulphate in patients with MPS I: results from an open label, randomized, monocentric phase II study.

scientific article published on 2 September 2016

Type B Niemann-Pick disease: findings at chest radiography, thin-section CT, and pulmonary function testing

scientific article

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