about
Efficacy and outcome of expanded newborn screening for metabolic diseases--report of 10 years from South-West GermanyMutations in ABCD4 cause a new inborn error of vitamin B12 metabolismNiemann-Pick disease type C symptomatology: an expert-based clinical descriptionLysosomal storage disorder in non-immunological hydrops fetalis (NIHF): more common than assumed? Report of four cases with transient NIHF and a review of the literaturePediatric non-neuronopathic Gaucher disease: presentation, diagnosis and assessment. Consensus statements.The management of pregnancy in Gaucher disease.Gastrointestinal disturbances and their management in miglustat-treated patients.Management of Life-Threatening Tracheal Stenosis and Tracheomalacia in Patients with MucopolysaccharidosesEnzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedure.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.Multi-domain impact of elosufase alfa in Morquio A syndrome in the pivotal phase III trial.A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency.Plasma lysosphingomyelin demonstrates great potential as a diagnostic biomarker for Niemann-Pick disease type C in a retrospective studyA prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type B.Outcome of patients with classical infantile pompe disease receiving enzyme replacement therapy in Germany.Paediatric non-neuronopathic Gaucher disease: recommendations for treatment and monitoring.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.Niemann-Pick Type C disease: characterizing lipid levels in patients with variant lysosomal cholesterol storage.Heart and Cardiovascular Involvement in Patients with Mucopolysaccharidosis Type IVA (Morquio-A Syndrome)Invariant natural killer T cells are not affected by lysosomal storage in patients with Niemann-Pick disease type C.Type B Niemann-Pick disease: findings at chest radiography, thin-section CT, and pulmonary function testing.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.Disease and patient characteristics in NP-C patients: findings from an international disease registry.Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicatorsLysosomal storage diseases as differential diagnoses to rheumatic disorders.A Suspicion Index to aid screening of early-onset Niemann-Pick disease Type C (NP-C)Altered distribution and function of natural killer cells in murine and human Niemann-Pick disease type C1.Relative acidic compartment volume as a lysosomal storage disorder-associated biomarkerLysosomal storage diseases as differential diagnosis of hepatosplenomegaly.Four-year follow-up of chronic neuronopathic Gaucher disease in Europeans using a modified severity scoring tool.Exploring the patient journey to diagnosis of Gaucher disease from the perspective of 212 patients with Gaucher disease and 16 Gaucher expert physicians.Force majeure: therapeutic measures in response to restricted supply of imiglucerase (Cerezyme) for patients with Gaucher disease.Differences in Niemann-Pick disease Type C symptomatology observed in patients of different ages.A study on the safety and efficacy of reveglucosidase alfa in patients with late-onset Pompe diseaseFunctional and genetic characterization of the non-lysosomal glucosylceramidase 2 as a modifier for Gaucher disease.36 months observational clinical study of 38 adult Pompe disease patients under alglucosidase alfa enzyme replacement therapy.Peripheral neuropathy in adult type 1 Gaucher disease: a 2-year prospective observational study.Diagnostic efficacy of the fluorometric determination of enzyme activity for Pompe disease from dried blood specimens compared with lymphocytes-possibility for newborn screening.Recommendations on the diagnosis and management of Niemann-Pick disease type C.Early access experience with VPRIV(®): recommendations for 'core data' collection.
P50
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P50
name
Eugen Mengel
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Eugen Mengel
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Eugen Mengel
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type
label
Eugen Mengel
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Eugen Mengel
@en
Eugen Mengel
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prefLabel
Eugen Mengel
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Eugen Mengel
@en
Eugen Mengel
@nl
P214
P214
P31
P7859
viaf-52908130