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Nineteen patients with deletions in chromosome 6p22-p24 have been published so far. The syndromic phenotype is varied, and includes intellectual disability, behavioural abnormalities, dysmorphic features and s...
Correct diagnosis is pivotal to understand and treat neurological disease. Herein, we report the diagnostic work-up utilizing exome sequencing and the characterization of clinical features and brain MRI in two...
Finding gene associations in rare diseases is frequently hampered by the reduced numbers of patients accessible. Conventional gene-based association tests rely on the availability of large cohorts, which const...
Previous studies have provided equivocal data on the use of miglustat as maintenance therapy in Gaucher disease type 1. We report findings from a clinical trial evaluating the effects of miglustat treatment in...
The Li-Fraumeni syndrome (LFS), an inherited rare cancer predisposition syndrome characterized by a variety of early-onset tumors, is caused by different highly penetrant germline mutations in the TP53 gene; each...
Pathologic studies play an important role in evaluating patients with Alport syndrome besides genotyping. Difficulties still exist in diagnosing Alport syndrome (AS), and misdiagnosis is a not-so-rare event, e...
Diffuse alveolar hemorrhage syndrome is a life threatening condition with diverse etiologies. Sensitive prognostic markers for diffuse alveolar hemorrhage have not been well investigated. Serum KL-6 is a bioma...
The original article was published in Orphanet Journal of Rare Diseases 2007 2:33
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...
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
Orphanet Journal of Rare Diseases