Page 65 of 83
Frequent feeds with carbohydrate-rich meals or continuous enteral feeding has been the therapy of choice in glycogen storage disease (Glycogenosis) type III. Recent guidelines on diagnosis and management recom...
Pregnant women with a history of acquired thrombotic thrombocytopenic purpura (TTP) are considered at risk for disease recurrence and might be at risk for miscarriage, similar to other autoimmune disorders. Ho...
Myotonic dystrophy type 1 (DM1) is an autosomal dominant genetic multisystem disorder and the commonest adult-onset form of muscular dystrophy. DM1 results from the expansion of an unstable trinucleotide cytos...
Tuberous sclerosis complex (TSC) is a rare, multisystem, genetic disorder with an estimated prevalence between 1/6800 and 1/15000. Although recent years have seen huge progress in understanding the pathophysio...
Testicular germ cell tumors (TGCTs) account for 1-2% of all tumors in young and middle aged men. A 75-fold increase in TCGT development has been reported for monozygotic (MZ) twins. Therefore, the occurrence o...
Cerebrotendinous xanthomatosis (CTX) OMIM#213700 is a rare autosomal-recessive lipid storage disease caused by mutations in the CYP27A1 gene; this gene codes for the mitochondrial enzyme sterol 27-hydroxylase, wh...
Fabry disease (FD) is a multisystemic disorder with typical neurological manifestations such as stroke and small fiber neuropathy (SFN), caused by mutations of the alpha-galactosidase A (GLA) gene. We analyzed 15...
Inborn errors of metabolism (IEM) form an important cause of movement disorders in children. The impact of metabolic diseases and concordant movement disorders upon children’s health-related quality of life (H...
Niemann-Pick disease type C (NP-C) is a rare autosomal recessive disorder of lysosomal cholesterol transport. The objective of this retrospective cohort study was to critically analyze the onset and time cours...
Dystonia, cerebellar atrophy, and cardiomyopathy constitute a rare association.
Alpha-1 antitrypsin (AAT) is the most abundant circulating antiprotease and is a member of the serine protease inhibitor (SERPIN) superfamily. The gene encoding AAT is the highly polymorphic SERPINA1 gene, found ...
Juvenile pulmonary alveolar proteinosis (PAP) due to CSF2RA mutations is a rare disorder with only a few cases described worldwide.
To provide a comprehensive characterisation of rare disease clinical trials registered in ClinicalTrials.gov, and compare against characteristics of trials in non-rare diseases.
Signs and symptoms of the X-linked disorder, Fabry disease (FD), can occur early during childhood with heterogeneous clinical manifestations including potential cardiac and renal dysfunction. Several studies s...
Nephropathic cystinosis is an inherited autosomal recessive lysosomal storage disorder characterized by the pathological accumulation and crystallization of cystine inside different cell types. WBC cystine det...
Morquio A (MPS IVA) is a rare disease characterised by a deficiency of N-acetylgalactosamine-6 sulfatase (GALNS) and presenting with short stature, abnormal gait, cervical spine instability and shortened lifes...
Usher syndrome is an autosomal recessive disease that associates sensorineural hearing loss, retinitis pigmentosa and, in some cases, vestibular dysfunction. It is clinically and genetically heterogeneous. To ...
Developing orphan drugs is challenging because of their severity and the requisite for effective drugs. The small number of patients does not allow conducting adequately powered randomized controlled trials (R...
The cblC defect is a rare inborn error of intracellular cobalamin metabolism. Biochemical hallmarks are elevated homocysteine and low methionine in plasma accompanied by methylmalonic aciduria. Due to the hete...
Subcutaneous panniculitis-like T cell lymphomas represent a rare and difficult to diagnose entity of cutaneous T cell lymphomas. SPTL affects predominantly young adults and presents with multifocal subcutaneou...
This article is part of a Supplement: Volume 9 Supplement 1
This article is part of a Supplement: Volume 9 Supplement 1
This article is part of a Supplement: Volume 9 Supplement 1
This article is part of a Supplement: Volume 9 Supplement 1
This article is part of a Supplement: Volume 9 Supplement 1
This article is part of a Supplement: Volume 9 Supplement 1
This article is part of a Supplement: Volume 9 Supplement 1
This article is part of a Supplement: Volume 9 Supplement 1
This article is part of a Supplement: Volume 9 Supplement 1
This article is part of a Supplement: Volume 9 Supplement 1
This article is part of a Supplement: Volume 9 Supplement 1
This article is part of a Supplement: Volume 9 Supplement 1
This article is part of a Supplement: Volume 9 Supplement 1
This article is part of a Supplement: Volume 9 Supplement 1
This article is part of a Supplement: Volume 9 Supplement 1
This article is part of a Supplement: Volume 9 Supplement 1
This article is part of a Supplement: Volume 9 Supplement 1
This article is part of a Supplement: Volume 9 Supplement 1
This article is part of a Supplement: Volume 9 Supplement 1
This article is part of a Supplement: Volume 9 Supplement 1
This article is part of a Supplement: Volume 9 Supplement 1
This article is part of a Supplement: Volume 9 Supplement 1
This article is part of a Supplement: Volume 9 Supplement 1
This article is part of a Supplement: Volume 9 Supplement 1
This article is part of a Supplement: Volume 9 Supplement 1
This article is part of a Supplement: Volume 9 Supplement 1
This article is part of a Supplement: Volume 9 Supplement 1
This article is part of a Supplement: Volume 9 Supplement 1
This article is part of a Supplement: Volume 9 Supplement 1
This article is part of a Supplement: Volume 9 Supplement 1
Orphanet Journal of Rare Diseases