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  1. The identification of acid mucopolysaccharide by the liquid chromatography/tandem mass spectrometry method (LC-MS/MS) of the predominant disaccharide units of glycosaminoglycans (GAGs) (chondroitin sulfate, CS...

    Authors: Chih-Kuang Chuang, Hsiang-Yu Lin, Tuen-Jen Wang, Chia-Chen Tsai, Hsuan-Liang Liu and Shuan-Pei Lin
    Citation: Orphanet Journal of Rare Diseases 2014 9:135
    Content type: Research Published on:

  2. The European Gaucher Alliance (EGA) was established in 1994 and constituted in 2008 as an umbrella group supporting patient organisations for Gaucher disease. Every two years, the EGA conducts a questionnaire ...

    Authors: Irena Žnidar, Tanya Collin-Histed, Pascal Niemeyer, Johanna Parkkinen, Anne-Grethe Lauridsen, Sandra Zariņa, Yossi Cohen and Jeremy Manuel
    Citation: Orphanet Journal of Rare Diseases 2014 9:134
    Content type: Research Published on:

  3. Methylmalonic and propionic acidemia (MMA/PA) are inborn errors of metabolism characterized by accumulation of propionic acid and/or methylmalonic acid due to deficiency of methylmalonyl-CoA mutase (MUT) or pr...

    Authors: Matthias R Baumgartner, Friederike Hörster, Carlo Dionisi-Vici, Goknur Haliloglu, Daniela Karall, Kimberly A Chapman, Martina Huemer, Michel Hochuli, Murielle Assoun, Diana Ballhausen, Alberto Burlina, Brian Fowler, Sarah C Grünert, Stephanie Grünewald, Tomas Honzik, Begoña Merinero…
    Citation: Orphanet Journal of Rare Diseases 2014 9:130
    Content type: Review Published on:

  4. Sengers syndrome is an autosomal recessive condition characterized by congenital cataract, hypertrophic cardiomyopathy, skeletal myopathy and lactic acidosis. Mutations in the acylglycerol kinase (AGK) gene have ...

    Authors: Alireza Haghighi, Tobias B Haack, Mehnaz Atiq, Hassan Mottaghi, Hamidreza Haghighi-Kakhki, Rani A Bashir, Uwe Ahting, René G Feichtinger, Johannes A Mayr, Agnès Rötig, Anne-Sophie Lebre, Thomas Klopstock, Andrea Dworschak, Nathan Pulido, Mahmood A Saeed, Nasrollah Saleh-Gohari…
    Citation: Orphanet Journal of Rare Diseases 2014 9:119
    Content type: Research Published on:

  5. Chediak-Higashi syndrome (CHS) is a rare, autosomal recessive congenital immunodeficiency caused by mutations in CHS1, a gene encoding a putative lysosomal trafficking protein. In the majority of patients, this d...

    Authors: Maria L Lozano, Jose Rivera, Isabel Sánchez-Guiu and Vicente Vicente
    Citation: Orphanet Journal of Rare Diseases 2014 9:132
    Content type: Review Published on:

  6. Bronchiolitis obliterans (BO) is a rare but severe disease in children. Currently, there is no consensus on the treatment for BO with respect to the systemic use of corticosteroids. Here we report on the follo...

    Authors: Silvia Onoda Tomikawa, Fabíola Villac Adde, Luiz Vicente Ribeiro Ferreira da Silva Filho, Claudio Leone and Joaquim Carlos Rodrigues
    Citation: Orphanet Journal of Rare Diseases 2014 9:128
    Content type: Research Published on:

  7. The small cell ovarian carcinoma of the hypercalcemic type (SCCOHT) which preferably affects young women during regenerative age represents a rare and aggressive form of ovarian tumors with poor prognosis and ...

    Authors: Anna Otte, Finn Rauprich, Peter Hillemanns, Tjoung-Won Park-Simon, Juliane von der Ohe and Ralf Hass
    Citation: Orphanet Journal of Rare Diseases 2014 9:126
    Content type: Research Published on:

  8. Pompe’s disease is a progressive myopathy caused by mutations in the lysosomal enzyme acid alphaglucosidase gene (GAA). A wide clinical variability occurs also in patients sharing the same GAA mutations, even wit...

    Authors: Paola De Filippi, Kolsoum Saeidi, Sabrina Ravaglia, Andrea Dardis, Corrado Angelini, Tiziana Mongini, Lucia Morandi, Maurizio Moggio, Antonio Di Muzio, Massimiliano Filosto, Bruno Bembi, Fabio Giannini, Giovanni Marrosu, Miriam Rigoldi, Paola Tonin, Serenella Servidei…
    Citation: Orphanet Journal of Rare Diseases 2014 9:102
    Content type: Research Published on:

  9. To date, few studies have investigated serum vitamin D status in patients with inherited ichthyosis. The aim of this study was to determine the prevalence of vitamin D deficiency (defined as serum level <10 ng...

    Authors: Flora Frascari, Isabelle Dreyfus, Lauriane Rodriguez, Isabelle Gennero, Khaled Ezzedine, Jean-Pierre Salles and Juliette Mazereeuw-Hautier
    Citation: Orphanet Journal of Rare Diseases 2014 9:127
    Content type: Research Published on:

  10. Cushing’s disease (CD) in a stricter sense derives from pathologic adrenocorticotropic hormone (ACTH) secretion usually triggered by micro- or macroadenoma of the pituitary gland. It is, thus, a form of second...

    Authors: Niels Eckstein, Bodo Haas, Moritz David Sebastian Hass and Vladlena Pfeifer
    Citation: Orphanet Journal of Rare Diseases 2014 9:122
    Content type: Review Published on:

  11. Drug development for rare diseases is challenging, especially when these orphan drugs (OD) are intended for children. In 2007 the EU Paediatric Drug Regulation was enacted to improve the development of high qu...

    Authors: Annemarie Rosan Kreeftmeijer-Vegter, Anthonius de Boer, Roselinda H van der Vlugt-Meijer and Peter J de Vries
    Citation: Orphanet Journal of Rare Diseases 2014 9:120
    Content type: Research Published on:

  12. Fragile X Syndrome (FXS) is the most common form of inherited intellectual disability and is also associated with autism spectrum disorders. Previous studies implicated BKCa channels in the neuropathogenesis o...

    Authors: Betty Hébert, Susanna Pietropaolo, Sandra Même, Béatrice Laudier, Anthony Laugeray, Nicolas Doisne, Angélique Quartier, Sandrine Lefeuvre, Laurence Got, Dominique Cahard, Frédéric Laumonnier, Wim E Crusio, Jacques Pichon, Arnaud Menuet, Olivier Perche and Sylvain Briault
    Citation: Orphanet Journal of Rare Diseases 2014 9:124
    Content type: Research Published on:

  13. Pulmonary arterial hypertension is a major complication of systemic sclerosis. Although oxidative stress, intima hyperplasia and a progressive vessel occlusion appear to be clearly involved, the fine molecular...

    Authors: Francesco Boin, Gian Luca Erre, Anna Maria Posadino, Annalisa Cossu, Roberta Giordo, Gaia Spinetti, Giuseppe Passiu, Costanza Emanueli and Gianfranco Pintus
    Citation: Orphanet Journal of Rare Diseases 2014 9:123
    Content type: Letter to the Editor Published on:

  14. Myofibrillar myopathies (MFM) are a group of phenotypically and genetically heterogeneous neuromuscular disorders, which are characterized by protein aggregations in muscle fibres and can be associated with mu...

    Authors: Anna-Lena Semmler, Sabrina Sacconi, J Elisa Bach, Claus Liebe, Jan Bürmann, Rudolf A Kley, Andreas Ferbert, Roland Anderheiden, Peter Van den Bergh, Jean-Jacques Martin, Peter De Jonghe, Eva Neuen-Jacob, Oliver Müller, Marcus Deschauer, Markus Bergmann, J Michael Schröder…
    Citation: Orphanet Journal of Rare Diseases 2014 9:121
    Content type: Research Published on:

  15. Hepatorenal tyrosinaemia (Tyr 1) is a rare inborn error of tyrosine metabolism. Without treatment, patients are at high risk of developing acute liver failure, renal dysfunction and in the long run hepatocellu...

    Authors: Sebene Mayorandan, Uta Meyer, Gülden Gokcay, Nuria Garcia Segarra, Hélène Ogier de Baulny, Francjan van Spronsen, Jiri Zeman, Corinne de Laet, Ute Spiekerkoetter, Eva Thimm, Arianna Maiorana, Carlo Dionisi-Vici, Dorothea Moeslinger, Michaela Brunner-Krainz, Amelie Sophia Lotz-Havla, José Angel Cocho de Juan…
    Citation: Orphanet Journal of Rare Diseases 2014 9:107
    Content type: Research Published on:

  16. A growing number of non-coding regulatory mutations are being identified in congenital disease. Very recently also some exons of protein coding genes have been identified to act as tissue specific enhancer ele...

    Authors: Naeimeh Tayebi, Aleksander Jamsheer, Ricarda Flöttmann, Anna Sowinska-Seidler, Sandra C Doelken, Barbara Oehl-Jaschkowitz, Wiebke Hülsemann, Rolf Habenicht, Eva Klopocki, Stefan Mundlos and Malte Spielmann
    Citation: Orphanet Journal of Rare Diseases 2014 9:108
    Content type: Research Published on:

  17. Hereditary hemorrhagic telangiectasia (HHT), a rare autosomal dominant disease, is considered under-diagnosed. Our primary objective was to provide evidence of under-diagnosis of HHT in a North American popula...

    Authors: Giuseppe A Latino, Dale Brown, Richard H Glazier, Jonathan T Weyman and Marie E Faughnan
    Citation: Orphanet Journal of Rare Diseases 2014 9:115
    Content type: Research Published on:

  18. Long-term complications and associated conditions of type 1 Gaucher Disease (GD) can include splenectomy, bone complications, pulmonary hypertension, Parkinson disease and malignancies. Enzyme replacement ther...

    Authors: Laura van Dussen, Marieke Biegstraaten, Marcel GW Dijkgraaf and Carla EM Hollak
    Citation: Orphanet Journal of Rare Diseases 2014 9:112
    Content type: Research Published on:

  19. Only a few prospective studies have determined which clinical symptoms and factors are associated with the disease severity of spinocerebellar ataxia type 6 (SCA6). A multicenter longitudinal cohort study was ...

    Authors: Kenichi Yasui, Ichiro Yabe, Kunihiro Yoshida, Kazuaki Kanai, Kimihito Arai, Mizuki Ito, Osamu Onodera, Shigeru Koyano, Eiji Isozaki, Setsu Sawai, Yoshiki Adachi, Hidenao Sasaki, Satoshi Kuwabara, Takamichi Hattori, Gen Sobue, Hidehiro Mizusawa…
    Citation: Orphanet Journal of Rare Diseases 2014 9:118
    Content type: Research Published on:

  20. Ehlers-Danlos syndrome (EDS, ORPHA98249) comprises a group of clinically and genetically heterogeneous heritable connective tissue disorders, chiefly characterized by joint hypermobility and instability, skin ...

    Authors: Thomas Wiesmann, Marco Castori, Fransiska Malfait and Hinnerk Wulf
    Citation: Orphanet Journal of Rare Diseases 2014 9:109
    Content type: Review Published on:

  22. In Taiwan, DNA-based newborn screening showed a surprisingly high incidence (1/875 in males and 1/399 in females) of a cardiac Fabry mutation (IVS4 + 919G > A). However, the natural course, long-term treatment...

    Authors: Hao-Chuan Liu, Hsiang-Yu Lin, Chia-Feng Yang, Hsuan-Chieh Liao, Ting-Rong Hsu, Chiao-Wei Lo, Fu-Pang Chang, Chun-Kai Huang, Yung-Hsiu Lu, Shuan-Pei Lin, Wen-Chung Yu and Dau-Ming Niu
    Citation: Orphanet Journal of Rare Diseases 2014 9:111
    Content type: Research Published on:

  23. SERPING1 mutations causing Hereditary Angioedema type I (HAE-I) due to C1-Inhibitor (C1-INH) deficiency display a dominant-negative effect usually resulting in protein levels far below the expected 50%. To furthe...

    Authors: Alberto López-Lera, Olga Pernia, Margarita López-Trascasa and Inmaculada Ibanez de Caceres
    Citation: Orphanet Journal of Rare Diseases 2014 9:103
    Content type: Letter to the Editor Published on:

  24. Involuntary movements, neuropsychiatric symptoms, and cognitive impairment are all part of the symptom triad in Huntington’s disease (HD). Despite the fact that neuropsychiatric symptoms and cognitive decline ...

    Authors: Tua Vinther-Jensen, Ida U Larsen, Lena E Hjermind, Esben Budtz-Jørgensen, Troels T Nielsen, Anne Nørremølle, Jørgen E Nielsen and Asmus Vogel
    Citation: Orphanet Journal of Rare Diseases 2014 9:114
    Content type: Research Published on:

  25. Immunoglobulin G4- related disease (IgG4-RD) is a rare systemic fibro-inflammatory disorder (ORPHA284264). Although patients have been described more than 100 years ago, the systemic nature of this disease has...

    Authors: Herwig Pieringer, Ilse Parzer, Adelheid Wöhrer, Petra Reis, Bastian Oppl and Jochen Zwerina
    Citation: Orphanet Journal of Rare Diseases 2014 9:110
    Content type: Review Published on:

  26. X-linked Ornithine Transcarbamylase deficiency (OTCD) is often unrecognized in adults, as clinical manifestations are non-specific, often episodic and unmasked by precipitants, and laboratory findings can be n...

    Authors: Catia Cavicchi, Maria Alice Donati, Rossella Parini, Miriam Rigoldi, Mauro Bernardi, Francesca Orfei, Nicolò Gentiloni Silveri, Aniello Colasante, Silvia Funghini, Serena Catarzi, Elisabetta Pasquini, Giancarlo la Marca, Sean David Mooney, Renzo Guerrini and Amelia Morrone
    Citation: Orphanet Journal of Rare Diseases 2014 9:105
    Content type: Research Published on:

  27. Hamartomatous Polyposis Syndromes (HPS) are genetic syndromes, which include Peutz-Jeghers syndrome, Juvenile polyposis syndrome, PTEN hamartoma tumour syndrome (Cowden Syndrom, Bannayan-Riley-Ruvalcaba and Prote...

    Authors: Anne Marie Jelsig, Niels Qvist, Klaus Brusgaard, Claus Buhl Nielsen, Tine Plato Hansen and Lilian Bomme Ousager
    Citation: Orphanet Journal of Rare Diseases 2014 9:101
    Content type: Review Published on:

  28. Progressive familial intrahepatic cholestasis type 1 (PFIC1), an inherited liver disease caused by mutations in ATP8B1, progresses to severe cholestasis with a sustained intractable itch. Currently, no effective ...

    Authors: Yasuhiro Hasegawa, Hisamitsu Hayashi, Sotaro Naoi, Hiroki Kondou, Kazuhiko Bessho, Koji Igarashi, Kentaro Hanada, Kie Nakao, Takeshi Kimura, Akiko Konishi, Hironori Nagasaka, Yoko Miyoshi, Keiichi Ozono and Hiroyuki Kusuhara
    Citation: Orphanet Journal of Rare Diseases 2014 9:89
    Content type: Research Published on:

  29. Respiratory bronchiolitis-associated interstitial lung disease (RB-ILD) is a rare, mild inflammatory pulmonary disorder that occurs almost exclusively in current or former heavy smokers, usually between the th...

    Authors: Alicja Sieminska and Krzysztof Kuziemski
    Citation: Orphanet Journal of Rare Diseases 2014 9:106
    Content type: Review Published on:

  30. Hereditary angioedema (HAE) due to C1 inhibitor deficiency is a rare but serious and potentially life-threatening disease marked by spontaneous, recurrent attacks of swelling. The study objective was to charac...

    Authors: Emel Aygören-Pürsün, Anette Bygum, Kathleen Beusterien, Emily Hautamaki, Zlatko Sisic, Suzanne Wait, Henrik B Boysen and Teresa Caballero
    Citation: Orphanet Journal of Rare Diseases 2014 9:99
    Content type: Research Published on:

  31. Major haemoglobinopathies (MH), such as thalassaemia syndromes (Thal) and sickle cell disorders (SCD), are genetic defects associated with chronic anaemia and other complications. In Europe, MH are rare diseas...

    Authors: Patricia Aguilar Martinez, Michael Angastiniotis, Androulla Eleftheriou, Beatrice Gulbis, Maria Del Mar Mañú Pereira, Roumyana Petrova-Benedict and Joan-Lluis Vives Corrons
    Citation: Orphanet Journal of Rare Diseases 2014 9:97
    Content type: Research Published on:

  32. In Taiwan, DNA-based newborn screening showed a surprisingly high incidence of a cardiac Fabry mutation (IVS4 + 919G > A). The prevalence of this mutation is too high to be believed that it is a real pathogeni...

    Authors: Ting-Rong Hsu, Shih-Hsien Sung, Fu-Pang Chang, Chia-Feng Yang, Hao-Chuan Liu, Hsiang-Yu Lin, Chun-Kai Huang, He-Jin Gao, Yu-Hsiu Huang, Hsuan-Chieh Liao, Pi-Chang Lee, An-Hang Yang, Chuan-Chi Chiang, Ching-Yuang Lin, Wen-Chung Yu and Dau-Ming Niu
    Citation: Orphanet Journal of Rare Diseases 2014 9:96
    Content type: Research Published on:

  33. MYH9-related disease (MYH9-RD) is a rare syndromic disorder deriving from mutations in MYH9, the gene for the heavy chain of non-muscle myosin IIA. Patients present with congenital thrombocytopenia and giant plat...

    Authors: Alessandro Pecci, Eva JJ Verver, Nicole Schlegel, Pietro Canzi, Carlos M Boccio, Helen Platokouki, Eike Krause, Marco Benazzo, Vedat Topsakal and Andreas Greinacher
    Citation: Orphanet Journal of Rare Diseases 2014 9:100
    Content type: Research Published on:

  34. There are an established and growing number of Mendelian genetic causes for chronic kidney disease (CKD) in adults, though estimates of prevalence have been speculative. The CKD Queensland (CKD.QLD) registry e...

    Authors: Andrew Mallett, Chirag Patel, Anne Salisbury, Zaimin Wang, Helen Healy and Wendy Hoy
    Citation: Orphanet Journal of Rare Diseases 2014 9:98
    Content type: Research Published on:

  35. Gaucher disease (GD) is a rare recessively inherited disorder caused by deficiency of a lysosomal enzyme, glucocerebrosidase. Accumulation of glucosylceramide or glucosylsphingosine in macrophages leads to inc...

    Authors: Marie Vigan, Jérôme Stirnemann, Catherine Caillaud, Roseline Froissart, Anne Boutten, Bruno Fantin, Nadia Belmatoug and France Mentré
    Citation: Orphanet Journal of Rare Diseases 2014 9:95
    Content type: Research Published on:

  36. Desmosterolosis is an autosomal recessive disorder of cholesterol biosynthesis caused by biallelic mutations of DHCR24 (homozygous or compound heterozygous), which encodes 3-β-hydroxysterol Δ-24-reductase. We rep...

    Authors: Cristina Dias, Rosemarie Rupps, Benjamin Millar, Kunho Choi, Marco Marra, Michelle Demos, Lisa E Kratz and Cornelius F Boerkoel
    Citation: Orphanet Journal of Rare Diseases 2014 9:94
    Content type: Letter to the Editor Published on:

  37. We report here on the building-up of a database of information related to 386 cases of Incontinentia Pigmenti collected in a thirteen-year activity (2000–2013) at our centre of expertise. The database has been...

    Authors: Francesca Fusco, Mariateresa Paciolla, Matilde Immacolata Conte, Alessandra Pescatore, Elio Esposito, Peppino Mirabelli, Maria Brigida Lioi and Matilde Valeria Ursini
    Citation: Orphanet Journal of Rare Diseases 2014 9:93
    Content type: Letter to the Editor Published on:

  38. The clinical characteristics distinguishing treatable thiamine transporter-2 deficiency (ThTR2) due to SLC19A3 genetic defects from the other devastating causes of Leigh syndrome are sparse.

    Authors: Juan Darío Ortigoza-Escobar, Mercedes Serrano, Marta Molero, Alfonso Oyarzabal, Mónica Rebollo, Jordi Muchart, Rafael Artuch, Pilar Rodríguez-Pombo and Belén Pérez-Dueñas
    Citation: Orphanet Journal of Rare Diseases 2014 9:92
    Content type: Research Published on:

  39. Sickle cell disease (SCD ORPHA232; OMIM 603903) is a rare hereditary red cell disorder, which global distribution is changed in the last decade due to immigration-fluxes from endemic areas to Western-countries...

    Authors: Gian Luca Forni, Gabriele Finco, Giovanna Graziadei, Manuela Balocco, Paolo Rigano, Silverio Perrotta, Oliviero Olivieri, Maria Domenica Cappellini and Lucia De Franceschi
    Citation: Orphanet Journal of Rare Diseases 2014 9:91
    Content type: Letter to the Editor Published on:

  40. Marfan syndrome is a rare disease of the connective tissues, affecting multiple organ systems. Elevated morbidity and mortality in these patients raises the issue of costs for sickness funds and society. To da...

    Authors: Dmitrij Achelrod, Carl Rudolf Blankart, Roland Linder, Yskert von Kodolitsch and Tom Stargardt
    Citation: Orphanet Journal of Rare Diseases 2014 9:90
    Content type: Research Published on:

  41. Sporadic inclusion body myositis (sIBM) is the commonest idiopathic inflammatory muscle disease in people over 50 years old. It is characterized by slowly progressive muscle weakness and atrophy, with typical ...

    Authors: Qiang Gang, Conceição Bettencourt, Pedro Machado, Michael G Hanna and Henry Houlden
    Citation: Orphanet Journal of Rare Diseases 2014 9:88
    Content type: Review Published on:

  42. The clinical characteristics of children diagnosed with Rett syndrome are well described. Survival and how these characteristics persist or change in adulthood are less well documented. This study aimed to des...

    Authors: Alison Anderson, Kingsley Wong, Peter Jacoby, Jenny Downs and Helen Leonard
    Citation: Orphanet Journal of Rare Diseases 2014 9:87
    Content type: Research Published on:

  43. Parkinson’s disease (PD) is a movement neurodegenerative disorder characterized by death of dopaminergic neurons in the substantia nigra pars compacta of the brain that leads to movement impairments including ...

    Authors: Inna Bendikov-Bar, Debora Rapaport, Sarit Larisch and Mia Horowitz
    Citation: Orphanet Journal of Rare Diseases 2014 9:86
    Content type: Research Published on:

  44. Pulmonary alveolar proteinosis (PAP) is very rare in children. Only a few small series have been published, with little information about long-term progression. The objective of our study was to describe the c...

    Authors: Laurent Enaud, Alice Hadchouel, Aurore Coulomb, Laureline Berteloot, Florence Lacaille, Liliane Boccon-Gibod, Vincent Boulay, Françoise Darcel, Matthias Griese, Mélinée Linard, Malek Louha, Michel Renouil, Jean-Pierre Rivière, Bruno Toupance, Virginie Verkarre, Christophe Delacourt…
    Citation: Orphanet Journal of Rare Diseases 2014 9:85
    Content type: Research Published on:

  45. Amelogenesis imperfecta (AI) is a genetically and clinically heterogeneous group of inherited dental enamel defects. Commonly described as an isolated trait, it may be observed concomitantly with other orodent...

    Authors: Muriel de la Dure-Molla, Mickael Quentric, Paulo Marcio Yamaguti, Ana-Carolina Acevedo, Alan J Mighell, Miikka Vikkula, Mathilde Huckert, Ariane Berdal and Agnes Bloch-Zupan
    Citation: Orphanet Journal of Rare Diseases 2014 9:84
    Content type: Review Published on:

  46. Patients with rare diseases such as congenital hypogonadotropic hypogonadism (CHH) are dispersed, often challenged to find specialized care and face other health disparities. The internet has the potential to ...

    Authors: Andrew A Dwyer, Richard Quinton, Diane Morin and Nelly Pitteloud
    Citation: Orphanet Journal of Rare Diseases 2014 9:83
    Content type: Research Published on:

  47. It has been reported that oxidation product of cholesterol, 7-ketocholesterol, increases in plasma of patients with NP-C. Previously, we established a rapid test to determine the plasma 7-ketocholesterol level...

    Authors: Huiwen Zhang, Yu Wang, Na Lin, Rui Yang, Wenjuan Qiu, Lianshu Han, Jun Ye and Xuefan Gu
    Citation: Orphanet Journal of Rare Diseases 2014 9:82
    Content type: Research Published on:

  48. Disease registries have the invaluable potential to provide an insight into the natural history of the disease under investigation, to provide useful information (e.g. through health indicators) for planning h...

    Authors: Laura Viviani, Anna Zolin, Anil Mehta and Hanne Vebert Olesen
    Citation: Orphanet Journal of Rare Diseases 2014 9:81
    Content type: Research Published on:

  49. A consanguineous Arab family is affected by an apparently novel autosomal recessive disorder characterized by cognitive impairment, failure-to-thrive, hypotonia and dysmorphic features including bilateral ptos...

    Authors: Marios Kambouris, Rachid C Maroun, Tawfeg Ben-Omran, Yasser Al-Sarraj, Khaoula Errafii, Rehab Ali, Hala Boulos, Patrick A Curmi and Hatem El-Shanti
    Citation: Orphanet Journal of Rare Diseases 2014 9:80
    Content type: Research Published on:

  50. Inborn enzyme defects of mitochondrial fatty acid beta-oxidation (FAO) form a large group of genetic disorders associated to variable clinical presentations ranging from life-threatening pediatric manifestatio...

    Authors: Virginie Aires, Dominique Delmas, Carole Le Bachelier, Norbert Latruffe, Dimitri Schlemmer, Jean-François Benoist, Fatima Djouadi and Jean Bastin
    Citation: Orphanet Journal of Rare Diseases 2014 9:79
    Content type: Research Published on:
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  • ISSN: 1750-1172 (electronic)

Orphanet Journal of Rare Diseases

ISSN: 1750-1172