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  1. Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):P7

    Content type: Poster presentation

    Published on:

    This article is part of a Supplement: Volume 5 Supplement 1

  2. Dent's disease is a renal tubular disorder characterized by manifestations of proximal tubule dysfunction, including low-molecular-weight proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis, and pro...

    Authors: Olivier Devuyst and Rajesh V Thakker

    Citation: Orphanet Journal of Rare Diseases 2010 5:28

    Content type: Review

    Published on:

  3. Mutations of the gene encoding the mitochondrial enzyme sterol 27-hydroxylase (CYP27A1 gene) cause defects in the cholesterol pathway to bile acids that lead to the storage of cholestanol and cholesterol in tendo...

    Authors: Hauke Schneider, Alexandra Lingesleben, Hans-Peter Vogel, Rita Garuti and Sebastiano Calandra

    Citation: Orphanet Journal of Rare Diseases 2010 5:27

    Content type: Case Report

    Published on:

  4. A female patient, with normal familial history, developed at the age of 30 months an episode of diarrhoea, vomiting and lethargy which resolved spontaneously. At the age of 3 years, the patient re-iterated vom...

    Authors: Anne-Frédérique Dessein, Monique Fontaine, Brage S Andresen, Niels Gregersen, Michèle Brivet, Daniel Rabier, Silvia Napuri-Gouel, Dries Dobbelaere, Karine Mention-Mulliez, Annie Martin-Ponthieu, Gilbert Briand, David S Millington, Christine Vianey-Saban, Ronald JA Wanders and Joseph Vamecq

    Citation: Orphanet Journal of Rare Diseases 2010 5:26

    Content type: Research

    Published on:

  5. Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, a...

    Authors: Maria Cristina Digilio and Bruno Dallapiccola

    Citation: Orphanet Journal of Rare Diseases 2010 5:25

    Content type: Review

    Published on:

  6. Familial hypocholesterolemia, namely abetalipoproteinemia, hypobetalipoproteinemia and chylomicron retention disease (CRD), are rare genetic diseases that cause malnutrition, failure to thrive, growth failure ...

    Authors: Noel Peretti, Agnès Sassolas, Claude C Roy, Colette Deslandres, Mathilde Charcosset, Justine Castagnetti, Laurence Pugnet-Chardon, Philippe Moulin, Sylvie Labarge, Lise Bouthillier, Alain Lachaux and Emile Levy

    Citation: Orphanet Journal of Rare Diseases 2010 5:24

    Content type: Review

    Published on:

  7. To determine the frequency and clinical features of bleeding disorders in the tribe as a result of consanguineous marriages.

    Authors: Munira Borhany, Zaen Pahore, Zeeshan ul Qadr, Muhammad Rehan, Arshi Naz, Asif Khan, Saqib Ansari, Tasneem Farzana, Muhammad Nadeem, Syed Amir Raza and Tahir Shamsi

    Citation: Orphanet Journal of Rare Diseases 2010 5:23

    Content type: Research

    Published on:

  8. Interstitial lung disease (ILD) in infants and children comprises a large spectrum of rare respiratory disorders that are mostly chronic and associated with high morbidity and mortality. These disorders are ch...

    Authors: Annick Clement, Nadia Nathan, Ralph Epaud, Brigitte Fauroux and Harriet Corvol

    Citation: Orphanet Journal of Rare Diseases 2010 5:22

    Content type: Review

    Published on:

  9. Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomalies syndromes in which the obligatory hallmark is the molar tooth sign (MTS), a complex midbrain-...

    Authors: Francesco Brancati, Bruno Dallapiccola and Enza Maria Valente

    Citation: Orphanet Journal of Rare Diseases 2010 5:20

    Content type: Review

    Published on:

  10. Imprinted genes with a parent-of-origin specific expression are involved in various aspects of growth that are rooted in the prenatal period. Therefore it is predictable that many of the so far known congenita...

    Authors: Thomas Eggermann, Matthias Begemann, Gerhard Binder and Sabrina Spengler

    Citation: Orphanet Journal of Rare Diseases 2010 5:19

    Content type: Review

    Published on:

  11. Rituximab is a monoclonal antibody inducing depletion of B lymphocytes and presently approved for the treatment of non-Hodgkin's lymphoma and rheumatoid arthritis. Here is the first report of the use of this d...

    Authors: Jelka G Orsoni, Bruno Laganà, Pierangela Rubino, Laura Zavota, Salvatore Bacciu and Paolo Mora

    Citation: Orphanet Journal of Rare Diseases 2010 5:18

    Content type: Case Report

    Published on:

  12. Congenital hypothyroidism (CH) occurs in approximately 1:2,000 to 1:4,000 newborns. The clinical manifestations are often subtle or not present at birth. This likely is due to trans-placental passage of some m...

    Authors: Maynika V Rastogi and Stephen H LaFranchi

    Citation: Orphanet Journal of Rare Diseases 2010 5:17

    Content type: Review

    Published on:

  13. Niemann-Pick C disease (NP-C) is a neurovisceral atypical lysosomal lipid storage disorder with an estimated minimal incidence of 1/120 000 live births. The broad clinical spectrum ranges from a neonatal rapid...

    Authors: Marie T Vanier

    Citation: Orphanet Journal of Rare Diseases 2010 5:16

    Content type: Review

    Published on:

  14. Sex chromosomal abnormalities are relatively common, yet many aspects of these syndromes remain unexplored. For instance epidemiological data in 47,XYY persons are still limited.

    Authors: Kirstine Stochholm, Svend Juul and Claus H Gravholt

    Citation: Orphanet Journal of Rare Diseases 2010 5:15

    Content type: Research

    Published on:

  15. Most lysosomal diseases (LD) are inherited as autosomal recessive traits, but two important conditions have X-linked inheritance: Fabry disease and Mucopolysaccharidosis II (MPS II). These two diseases show a ...

    Authors: Louise LC Pinto, Taiane A Vieira, Roberto Giugliani and Ida VD Schwartz

    Citation: Orphanet Journal of Rare Diseases 2010 5:14

    Content type: Review

    Published on:

  16. Alpha-thalassaemia is inherited as an autosomal recessive disorder characterised by a microcytic hypochromic anaemia, and a clinical phenotype varying from almost asymptomatic to a lethal haemolytic anaemia.

    Authors: Cornelis L Harteveld and Douglas R Higgs

    Citation: Orphanet Journal of Rare Diseases 2010 5:13

    Content type: Review

    Published on:

  17. Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues. All types a...

    Authors: Jo-David Fine

    Citation: Orphanet Journal of Rare Diseases 2010 5:12

    Content type: Review

    Published on:

  18. Beta-thalassemias are a group of hereditary blood disorders characterized by anomalies in the synthesis of the beta chains of hemoglobin resulting in variable phenotypes ranging from severe anemia to clinicall...

    Authors: Renzo Galanello and Raffaella Origa

    Citation: Orphanet Journal of Rare Diseases 2010 5:11

    Content type: Review

    Published on:

  19. Malignant hyperthermia (MH) is a dominantly inherited skeletal muscle disorder that can cause a fatal hypermetabolic reaction to general anaesthetics. The primary locus of MH (MHS1 locus) in humans is linked t...

    Authors: Hilbert Grievink and Kathryn M Stowell

    Citation: Orphanet Journal of Rare Diseases 2010 5:10

    Content type: Research

    Published on:

  20. Surgically correctable forms of primary aldosteronism are characterized by unilateral aldosterone hypersecretion and renin suppression, associated with varying degrees of hypertension and hypokalemia. Unilater...

    Authors: Laurence Amar, Pierre-François Plouin and Olivier Steichen

    Citation: Orphanet Journal of Rare Diseases 2010 5:9

    Content type: Review

    Published on:

  21. Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX). It is the most common female chromosomal abnormality, occur...

    Authors: Nicole R Tartaglia, Susan Howell, Ashley Sutherland, Rebecca Wilson and Lennie Wilson

    Citation: Orphanet Journal of Rare Diseases 2010 5:8

    Content type: Review

    Published on:

  22. Congenital disorders of glycosylation (CDG) are an expanding group of inherited metabolic diseases with multisystem involvement. ALG6-CDG (CDGIc) is an endoplasmatic reticulum defect in N-glycan assembly. It i...

    Authors: Mohammed Al-Owain, Sarar Mohamed, Namik Kaya, Ahmad Zagal, Gert Matthijs and Jaak Jaeken

    Citation: Orphanet Journal of Rare Diseases 2010 5:7

    Content type: Case Report

    Published on:

  23. Hereditary renal adysplasia is an autosomal dominant trait with incomplete penetrance and variable expression that is usually associated with malformative combinations (including Müllerian anomalies) affecting...

    Authors: Pedro Acién, Francisco Galán, Irene Manchón, Eva Ruiz, Maribel Acién and Luis A Alcaraz

    Citation: Orphanet Journal of Rare Diseases 2010 5:6

    Content type: Case Report

    Published on: