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Monogenic diseases are ideal candidates for treatment by the emerging advanced therapies, which are capable of correcting alterations in protein expression that result from genetic mutation. In hemophilia A an...
A population of patients with unexplained neurological symptoms from six major French university hospitals was screened over a 28-month period for primary creatine disorder (PCD). Urine guanidinoacetate (GAA) ...
Amyloidosis cutis dyschromica is a rarely documented variant of cutaneous amyloidosis. To date, only 26 cases have been reported.
The Conserved Oligomeric Golgi (COG) complex is involved in the retrograde trafficking of Golgi components, thereby affecting the localization of Golgi glycosyltransferases. Deficiency of a COG-subunit leads t...
The Erratum to this article has been published in Orphanet Journal of Rare Diseases 2013 8:120
The porphyrias are a heterogeneous group of rare metabolic diseases. The full spectrum of porphyria diagnostics is usually performed by specialized porphyria laboratories or centres. The European Porphyria Ini...
Classically characterized by early onset insulin-dependent diabetes mellitus, optic atrophy, deafness, diabetes insipidus, and neurological abnormalities, Wolfram syndrome (WFS) is also associated with atypica...
Fabry disease (FD) is a genetic disorder resulting from deficiency of the lysosomal enzyme α-galactosidase A (α-Gal A), which leads to globotriaosylceramide (GL-3) accumulation in multiple tissues. We report o...
D-bifunctional protein (DBP) deficiency is typically apparent within the first month of life with most infants demonstrating hypotonia, psychomotor delay and seizures. Few children survive beyond two years of ...
This article is part of a Supplement: Volume 7 Supplement 2
This article is part of a Supplement: Volume 7 Supplement 2
This article is part of a Supplement: Volume 7 Supplement 2
This article is part of a Supplement: Volume 7 Supplement 2
This article is part of a Supplement: Volume 7 Supplement 2
This article is part of a Supplement: Volume 7 Supplement 2
This article is part of a Supplement: Volume 7 Supplement 2
This article is part of a Supplement: Volume 7 Supplement 2
This article is part of a Supplement: Volume 7 Supplement 2
This article is part of a Supplement: Volume 7 Supplement 2
This article is part of a Supplement: Volume 7 Supplement 2
This article is part of a Supplement: Volume 7 Supplement 2
This article is part of a Supplement: Volume 7 Supplement 2
This article is part of a Supplement: Volume 7 Supplement 2
This article is part of a Supplement: Volume 7 Supplement 2
This article is part of a Supplement: Volume 7 Supplement 2
This article is part of a Supplement: Volume 7 Supplement 2
This article is part of a Supplement: Volume 7 Supplement 2
This article is part of a Supplement: Volume 7 Supplement 2
This article is part of a Supplement: Volume 7 Supplement 2
This article is part of a Supplement: Volume 7 Supplement 2
This article is part of a Supplement: Volume 7 Supplement 2
This article is part of a Supplement: Volume 7 Supplement 2
This article is part of a Supplement: Volume 7 Supplement 2
This article is part of a Supplement: Volume 7 Supplement 2
This article is part of a Supplement: Volume 7 Supplement 2
This article is part of a Supplement: Volume 7 Supplement 2
This article is part of a Supplement: Volume 7 Supplement 2
This article is part of a Supplement: Volume 7 Supplement 2
This article is part of a Supplement: Volume 7 Supplement 2
This article is part of a Supplement: Volume 7 Supplement 2
This article is part of a Supplement: Volume 7 Supplement 2
This article is part of a Supplement: Volume 7 Supplement 2
This article is part of a Supplement: Volume 7 Supplement 2
This article is part of a Supplement: Volume 7 Supplement 2
This article is part of a Supplement: Volume 7 Supplement 2
This article is part of a Supplement: Volume 7 Supplement 2
This article is part of a Supplement: Volume 7 Supplement 2
This article is part of a Supplement: Volume 7 Supplement 2
This article is part of a Supplement: Volume 7 Supplement 2
This article is part of a Supplement: Volume 7 Supplement 2
Wolfram syndrome (WFS) is a rare, neurodegenerative disease that typically presents with childhood onset insulin dependent diabetes mellitus, followed by optic atrophy, diabetes insipidus, deafness, and neurol...
Orphanet Journal of Rare Diseases