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We report here selected findings from a mixed-methods study investigating the role of Australian rare disease patient organisations (RDPOs) in research. Despite there being many examples of RDPOs that have ini...
Ischiospinal dysostosis (ISD) is a polytopic dysostosis characterized by ischial hypoplasia, multiple segmental anomalies of the cervicothoracic spine, hypoplasia of the lumbrosacral spine and occasionally ass...
Inherited neurometabolic disorders (iNMDs) represent a group of almost seven hundred rare diseases whose common manifestations are clinical neurologic or cognitive symptoms that can appear at any time, in the ...
The Erratum to this article has been published in Orphanet Journal of Rare Diseases 2016 11:147
Glutaric aciduria type I (GA-I) is an inherited metabolic disease due to deficiency of glutaryl-CoA dehydrogenase (GCDH). Cognitive functions are generally thought to be spared, but have not yet been studied i...
Special low protein foods (SLPF) are essential in the nutritional management of patients with phenylketonuria (PKU). The study objectives were to: 1) identify the number of SLPF available for use in eight Euro...
In 1581 Rembert Dodoens wrote “Medicinalium observationum exempla rara, recognita et aucta” a Latin book about the diagnosis and treatment of disorders with a low prevalence.
Niemann-Pick Type C disease (NPC), is an autosomal recessive neurovisceral disorder of lipid metabolism. One characteristic feature of NPC is a vertical supranuclear gaze palsy particularly affecting saccades....
Adenosine deaminase-deficient severe combined immunodeficiency (ADA-SCID) is characterized by impaired T-, B- and NK-cell function. Affected children, in addition to early onset of infections, manifest non-imm...
Mutations in Phenylalanine Hydroxylase (PAH) gene cause phenylketonuria. Sapropterin (BH4), the enzyme cofactor, is an important therapeutical strategy in phenylketonuria. However, PAH is a highly polymorphic gen...
To evaluate novel grading system used to quantify optical coherence tomography (OCT) scans for cystic macular lesions (CML) in Usher syndrome (USH) patients, focusing on CML associated alterations in MOY7A and US...
Earlier studies have shown that the absolute number of neutrophil granulocytes (NGs) may increase during attack of hereditary angioedema due to C1-inhibitor deficiency (C1-INH-HAE). Whether NGs undergo activat...
Ataxia-telangiectasia (A-T) is a devastating human autosomal recessive disorder that causes progressive cerebellar ataxia, immunodeficiency, premature aging, chromosomal instability and increased cancer risk. ...
Neuropsychiatric disorders are present in up to 90 % of patients with Tuberous Sclerosis Complex (TSC), and represent an important issue for families. Autism Spectrum Disorder (ASD) is the most common neurobeh...
Marfan syndrome is a genetic disorder with considerable morbidity and mortality. Presently, clinicians use the 2010 revised Ghent nosology, which includes optional genetic sequencing of the FBN1 gene, to diagnose...
Osteogenesis imperfecta (OI) is a congenital disorder characterized by increased bone fragility and low bone mass.
Zellweger spectrum disorders (ZSDs) represent the major subgroup within the peroxisomal biogenesis disorders caused by defects in PEX genes. The Zellweger spectrum is a clinical and biochemical continuum which ca...
Up to now, only limited data on long-term medical treatment in congenital hyperinsulinism (CHI) is available. Moreover, most of the drugs used in CHI are therefore not approved. We aimed to assemble more objec...
Patients with rare and ultra-rare diseases make heavy demands on the resources of both health and social services, but these resources are often used inefficiently due to delays in diagnosis, poor and fragment...
Fetal akinesia/hypokinesia, arthrogryposis and severe congenital myopathies are heterogeneous conditions usually presenting before or at birth. Although numerous causative genes have been identified for each o...
The hereditary spastic paraplegias (HSPs) are rare neurodegenerative gait disorders which are genetically highly heterogeneous. For each single form, eventual consideration of therapeutic strategies requires a...
A better understanding of the natural history of osteogenesis imperfecta (OI) in adulthood should improve health care for patients with this rare condition.
This article is part of a Supplement: Volume 10 Supplement 2
This article is part of a Supplement: Volume 10 Supplement 2
This article is part of a Supplement: Volume 10 Supplement 2
This article is part of a Supplement: Volume 10 Supplement 2
This article is part of a Supplement: Volume 10 Supplement 2
This article is part of a Supplement: Volume 10 Supplement 2
This article is part of a Supplement: Volume 10 Supplement 2
This article is part of a Supplement: Volume 10 Supplement 2
This article is part of a Supplement: Volume 10 Supplement 2
This article is part of a Supplement: Volume 10 Supplement 2
This article is part of a Supplement: Volume 10 Supplement 2
This article is part of a Supplement: Volume 10 Supplement 2
This article is part of a Supplement: Volume 10 Supplement 2
This article is part of a Supplement: Volume 10 Supplement 2
This article is part of a Supplement: Volume 10 Supplement 2
This article is part of a Supplement: Volume 10 Supplement 2
This article is part of a Supplement: Volume 10 Supplement 2
This article is part of a Supplement: Volume 10 Supplement 2
This article is part of a Supplement: Volume 10 Supplement 2
This article is part of a Supplement: Volume 10 Supplement 2
This article is part of a Supplement: Volume 10 Supplement 2
This article is part of a Supplement: Volume 10 Supplement 2
This article is part of a Supplement: Volume 10 Supplement 2
This article is part of a Supplement: Volume 10 Supplement 2
This article is part of a Supplement: Volume 10 Supplement 2
This article is part of a Supplement: Volume 10 Supplement 2
This article is part of a Supplement: Volume 10 Supplement 2
This article is part of a Supplement: Volume 10 Supplement 2
This article is part of a Supplement: Volume 10 Supplement 2
Orphanet Journal of Rare Diseases