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  1. Authors: Pam Griffiths, Kate Strong, Sara Gardner, Ruth Day, Caroline Harrison, Kerr Bronwyn, Kay Metcalfe, Han Brunner, Dian Donnai, Bruno Dallapiccola, Koenraad Devriendt, Malgorzata Krajewska-Walasek, Nicole Philip and Jill Clayton-Smith

    Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):P20

    Content type: Poster presentation

    Published on:

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

  2. 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

  3. 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:

  4. 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:

  5. 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:

  6. 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:

  7. 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:

  8. 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:

  9. 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:

  10. 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:

  11. 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: