Considering Fabry, but Diagnosing MPS I: Difficulties in the Diagnostic Process

Langereis, Eveline J.; Berg, Inge E.T. van den; Halley, Dicky; Poorthuis, B. J. H. M.; Vaz, Frédéric M.; Wokke, John H. J.; Linthorst, Gabor E.

doi:10.1007/8904_2012_189

Cited by 4 publications

(1 citation statement)

References 17 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…1 There has been little published data related to immune response for other LSDs. However, pharmacodynamic data from clinical studies in other LSDs [24], as well as animal model data, suggest that the in vivo lessons from IPD may provide insight and make possible recommendations in other LSDs, albeit with a need for further data collection and analysis.…”

Section: Accepted M Manuscriptmentioning

confidence: 99%

Immune response to enzyme replacement therapies in lysosomal storage diseases and the role of immune tolerance induction

Kishnani

Dickson

Muldowney

et al. 2016

Molecular Genetics and Metabolism

View full text Add to dashboard Cite

Immune response to enzyme replacement therapies in lysosomal storage diseases and the role of immune tolerance induction, Molecular Genetics and Metabolism (2015), doi: 10.1016/j.ymgme.2015 This is a PDF file of an unedited manuscript that has been accepted for publication. As a service to our customers we are providing this early version of the manuscript. The manuscript will undergo copyediting, typesetting, and review of the resulting proof before it is published in its final form. Please note that during the production process errors may be discovered which could affect the content, and all legal disclaimers that apply to the journal pertain. The opinions presented herein are those of the authors and do not reflect the positions of all participants nor the institutions they represent. A C C E P T E D M A N U S C R I P T ACCEPTED MANUSCRIPT A C C E P T E D M A N U S C R I P T ACCEPTED MANUSCRIPT

show abstract

Section: Accepted M Manuscriptmentioning

confidence: 99%

Immune response to enzyme replacement therapies in lysosomal storage diseases and the role of immune tolerance induction

Kishnani

Dickson

Muldowney

et al. 2016

Molecular Genetics and Metabolism

View full text Add to dashboard Cite

show abstract

Misdiagnosis in mucopolysaccharidoses

Wiśniewska

Wolski²,

Gaffke

et al. 2022

J Appl Genetics

View full text Add to dashboard Cite

Lessons from two cases: is Fabry disease the correct diagnosis?

et al. 2015

View full text Add to dashboard Cite

Fabry disease (FD) is an X linked inherited lysosomal storage disorder with complex multisystem involvement; it is caused by deficiency of the lysosomal enzyme α-galactosidase. Deficient enzyme activity leads to a wide spectrum of clinical manifestations consisting of dermatological, ophthalmological, cardiovascular, and urinary and central nervous system findings. As a result, FD should be considered in the differential diagnosis of many systemic diseases. Diagnosis of FD can arise from careful clinical and instrumental investigations, together with family history data and accurate interpretation of genetic and enzymatic analyses. Lack of knowledge on clinical findings of the disease and inept investigation methods unfortunately result in erroneous diagnosis. We present two patients who were referred to our clinic with a suspicion of ED and finally diagnosed as glycogen storage disorder type III and ornithine transcarbamylase deficiency, respectively.

show abstract

Considering Fabry, but Diagnosing MPS I: Difficulties in the Diagnostic Process

Cited by 4 publications

References 17 publications

Immune response to enzyme replacement therapies in lysosomal storage diseases and the role of immune tolerance induction

Immune response to enzyme replacement therapies in lysosomal storage diseases and the role of immune tolerance induction

Misdiagnosis in mucopolysaccharidoses

Lessons from two cases: is Fabry disease the correct diagnosis?

Contact Info

Product

Resources

About