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  1. Hereditary angioedema with C1-inhibitor deficiency (C1-INH-HAE) is characterized by recurrent attacks of swelling that affect various body sites. Such attacks are a frequent cause of visits to the emergency de...

    Authors: Veronica Squeglia, Alessandro Barbarino, Maria Bova, Carmela Gravante, Angelica Petraroli, Giuseppe Spadaro, Massimo Triggiani, Arturo Genovese and Gianni Marone
    Citation: Orphanet Journal of Rare Diseases 2016 11:133
    Content type: Research Published on:

  2. Rett Syndrome is a neurodevelopmental disorder almost exclusively affecting females, characterized by a broad clinical spectrum of signs and symptoms and a peculiar course. The disease affects different body s...

    Authors: G. Pini, S. Bigoni, L. Congiu, A. M. Romanelli, M. F. Scusa, P. Di Marco, A. Benincasa, P. Morescalchi, A. Ferlini, F. Bianchi, D. Tropea and M. Zappella
    Citation: Orphanet Journal of Rare Diseases 2016 11:132
    Content type: Research Published on:

  3. This paper reports on the ‘Prader-Willi Syndrome (PWS) Mental Health Research Strategy Workshop’ that took place in March 2015. PWS is characterized by a complex phenotype affecting multiple systems with a hig...

    Authors: Lauren Schwartz, Anthony Holland, Elisabeth Dykens, Theresa Strong, Elizabeth Roof and Jessica Bohonowych
    Citation: Orphanet Journal of Rare Diseases 2016 11:131
    Content type: Review Published on:

  4. We examined an extended, consanguineous family with seven individuals with severe intellectual disability and microcephaly. Further symptoms were hearing loss, vision impairment, gastrointestinal disturbances,...

    Authors: Rebecca Buchert, Addie I. Nesbitt, Hasan Tawamie, Ian D. Krantz, Livija Medne, Ingo Helbig, Dena R. Matalon, André Reis, Avni Santani, Heinrich Sticht and Rami Abou Jamra
    Citation: Orphanet Journal of Rare Diseases 2016 11:130
    Content type: Letter to the Editor Published on:

  5. Tuberous sclerosis (TSC) is a monogenic disease resulting from defects of the TSC1 or TSC2 genes, which encode the proteins forming hamartin-tuberin tumor suppressor complex, the mammalian target of rapamycin com...

    Authors: Joanna Trelinska, Wojciech Fendler, Iwona Dachowska, Katarzyna Kotulska, Sergiusz Jozwiak, Karolina Antosik, Piotr Gnys, Maciej Borowiec and Wojciech Mlynarski
    Citation: Orphanet Journal of Rare Diseases 2016 11:129
    Content type: Research Published on:

  6. Renal angiomyolipomas (AML) are usual manifestations of tuberous sclerosis complex (TSC) that may cause aneurism-related haemorrhages and renal impairment. Everolimus has emerged as an alternative to surgery/e...

    Authors: Nicolás Roberto Robles, Ramón Peces, Álvaro Gómez-Ferrer, Felipe Villacampa, Jose Luis Álvarez-Ossorio, Pedro Pérez-Segura, Juan Morote, Bernardo Herrera-Imbroda, Javier Nieto, Joaquín Carballido, Urbano Anido, Marian Valero, Cristina Meseguer and Roser Torra
    Citation: Orphanet Journal of Rare Diseases 2016 11:128
    Content type: Research Published on:

  7. The efficacy and safety of intra-venous (i.v.) sodium benzoate for treating acute episodes of hyperammonemia in urea cycle enzyme disorders (UCD) is well known. However, published data do not provide a clear p...

    Authors: Marie-Caroline Husson, Manuel Schiff, Alain Fouilhoux, Aline Cano, Dries Dobbelaere, Anais Brassier, Karine Mention, Jean-Baptiste Arnoux, François Feillet, Brigitte Chabrol, Nathalie Guffon, Caroline Elie and Pascale de Lonlay
    Citation: Orphanet Journal of Rare Diseases 2016 11:127
    Content type: Research Published on:

  8. Inborn errors of metabolism (IEMs) are individually rare; however, they are collectively common. More than 600 human diseases caused by inborn errors of metabolism are now recognized, and this number is consta...

    Authors: Majid Alfadhel, Mohammed Benmeakel, Mohammad Arif Hossain, Fuad Al Mutairi, Ali Al Othaim, Ahmed A. Alfares, Mohammed Al Balwi, Abdullah Alzaben and Wafaa Eyaid
    Citation: Orphanet Journal of Rare Diseases 2016 11:126
    Content type: Research Published on:

  9. Although the majority of small in-frame insertions/deletions (indels) has no or little effect on protein function, a subset of these changes has been causally associated with genetic disorders. Notably, the mo...

    Authors: Panagiotis I. Sergouniotis, Stephanie J. Barton, Sarah Waller, Rahat Perveen, Jamie M. Ellingford, Christopher Campbell, Georgina Hall, Rachel L. Gillespie, Sanjeev S. Bhaskar, Simon C. Ramsden, Graeme C. Black and Simon C. Lovell
    Citation: Orphanet Journal of Rare Diseases 2016 11:125
    Content type: Research Published on:

  10. Hypermobile Ehlers-Danlos syndrome (hEDS), is probably the most common disease among heritable connective tissue disorders. It affects women more than men and causes symptoms in multiple organs. It is associat...

    Authors: Justine Hugon-Rodin, Géraldine Lebègue, Stéphanie Becourt, Claude Hamonet and Anne Gompel
    Citation: Orphanet Journal of Rare Diseases 2016 11:124
    Content type: Research Published on:

  11. The mainstay of treating patients with phenylketonuria (PKU) is based on a Phe-restricted diet, restrictive in natural protein combined with Phe-free L-amino acid supplements and low protein foods. This PKU di...

    Authors: María L. Couce, Isidro Vitoria, Luís Aldámiz-Echevarría, Ana Fernández-Marmiesse, Iria Roca, Marta Llarena, Paula Sánchez-Pintos, Rosaura Leis and Alvaro Hermida
    Citation: Orphanet Journal of Rare Diseases 2016 11:123
    Content type: Research Published on:

  13. Niemann-Pick type C (NP-C) is a rare autosomal recessive progressive neurodegenerative disorder caused by mutations in the NP-C 1 or 2 gene. Besides visceral symptoms, presentation in adolescent and adult onse...

    Authors: L. H. Koens, A. Kuiper, M. A. Coenen, J. W. J. Elting, J. J. de Vries, M. Engelen, J. H. T. M. Koelman, F. J. van Spronsen, J. M. Spikman, T. J. de Koning and M. A. J. Tijssen
    Citation: Orphanet Journal of Rare Diseases 2016 11:121
    Content type: Research Published on:

  14. Aberrant activation of the Hedgehog (Hh) pathway is a key driver in the pathogenesis of basal cell carcinomas (BCCs), including patients with BCC nevus syndrome (BCCNS). It is unclear whether BCCs arising in p...

    Authors: Anne Lynn S. Chang, Sarah T. Arron, Michael R. Migden, James A. Solomon, Simon Yoo, Bann-Mo Day, Edward F. McKenna and Aleksandar Sekulic
    Citation: Orphanet Journal of Rare Diseases 2016 11:120
    Content type: Research Published on:

  15. Whole lung lavage (WLL) is the current standard of care treatment for patients affected by pulmonary alveolar proteinosis (PAP). However, WLL is not standardized and international consensus documents are lacking.

    Authors: Ilaria Campo, Maurizio Luisetti, Matthias Griese, Bruce C. Trapnell, Francesco Bonella, Jan Grutters, Koh Nakata, Coline H. M. Van Moorsel, Ulrich Costabel, Vincent Cottin, Toshio Ichiwata, Yoshikazu Inoue, Antonio Braschi, Giacomo Bonizzoni, Giorgio A. Iotti, Carmine Tinelli…
    Citation: Orphanet Journal of Rare Diseases 2016 11:115
    Content type: Research Published on:

  16. The mucopolysaccharidoses (MPS) comprise a heterogeneous family of rare, genetic lysosomal storage disorders that result in severe morbidity and reduced life expectancy. Emerging treatments for several of thes...

    Authors: Christian J. Hendriksz, Kenneth I. Berger, Christina Lampe, Susanne G. Kircher, Paul J. Orchard, Rebecca Southall, Sarah Long, Stephen Sande and Jeffrey I. Gold
    Citation: Orphanet Journal of Rare Diseases 2016 11:119
    Content type: Review Published on:

  17. Inherited peripheral neuropathies (IPN) are the most common inherited neurological condition. It represents a highly heterogeneous group, both clinically and genetically.

    Authors: Petra Laššuthová, Dana Šafka Brožková, Marcela Krůtová, Jana Neupauerová, Jana Haberlová, Radim Mazanec, Pavel Dřímal and Pavel Seeman
    Citation: Orphanet Journal of Rare Diseases 2016 11:118
    Content type: Research Published on:

  18. Inherited epidermolysis bullosa (EB) comprises a highly heterogeneous group of rare diseases characterized by exacerbated skin and/or mucosal fragility and blister formation after minor mechanical trauma. Leve...

    Authors: H. Montaudié, C. Chiaverini, E. Sbidian, A. Charlesworth and J-P. Lacour
    Citation: Orphanet Journal of Rare Diseases 2016 11:117
    Content type: Review Published on:

  19. Urea cycle disorders (UCDs) are rare inherited metabolic defects of ammonia detoxification. In about half of patients presenting with a UCD, the first symptoms appear within a few days after birth. These neona...

    Authors: Caroline Unsinn, Anibh Das, Vassili Valayannopoulos, Eva Thimm, Skadi Beblo, Alberto Burlina, Vassiliki Konstantopoulou, Sebene Mayorandan, Pascale de Lonlay, Jörg Rennecke, Jens Derbinski, Georg F. Hoffmann and Johannes Häberle
    Citation: Orphanet Journal of Rare Diseases 2016 11:116
    Content type: Research Published on:

  20. Chylomicron retention disease (CMRD), a rare genetic hypocholesterolemia, results in neuro-ophtalmologic damages, which can be prevented by high doses of vitamin E during infancy. In these patients, plasma vit...

    Authors: Charlotte Cuerq, Lioara Restier, Jocelyne Drai, Emilie Blond, Adeline Roux, Sybil Charriere, Marie-Caroline Michalski, Mathilde Di Filippo, Emile Levy, Alain Lachaux and Noël Peretti
    Citation: Orphanet Journal of Rare Diseases 2016 11:114
    Content type: Research Published on:

  21. McCune–Albright syndrome (MAS) is a rare disease defined by the triad of fibrous dysplasia (FD), café au lait spots, and peripheral precocious puberty (PP). Because of the rarity of this disease, only a few in...

    Authors: Eun-Kyung Cho, Jinsup Kim, Aram Yang, Chang-Seok Ki, Ji-Eun Lee, Sung Yoon Cho and Dong-Kyu Jin
    Citation: Orphanet Journal of Rare Diseases 2016 11:113
    Content type: Research Published on:

  22. Phenylketonuria is an autosomal recessive inborn error of metabolism which can be prevented by early and continuous treatment. Therefore newborn screening for phenylketonuria has been introduced in many countr...

    Authors: Mirjana Kocova and Violeta Anastasovska
    Citation: Orphanet Journal of Rare Diseases 2016 11:112
    Content type: Letter to the Editor Published on:

    The original article was published in Orphanet Journal of Rare Diseases 2015 10:68

  23. The vascular type represents a very rare, yet the clinically most fatal entity of Ehlers-Danlos syndrome (EDS). Patients are often admitted due to arterial bleedings and the friable tissue and the altered coag...

    Authors: Albert Busch, Sabine Hoffjan, Frauke Bergmann, Birgit Hartung, Helena Jung, Daniela Hanel, Andeas Tzschach, Janos Kadar, Yskert von Kodolitsch, Christoph-Thomas Germer, Heiner Trobisch, Erwin Strasser and René Wildenauer
    Citation: Orphanet Journal of Rare Diseases 2016 11:111
    Content type: Research Published on:

  24. Patients with syndromic features frequently suffer from recurrent respiratory infections, but little is known about the spectrum of immunological abnormalities associated with their underlying chromosomal aber...

    Authors: Ellen Schatorjé, Michiel van der Flier, Mikko Seppänen, Michael Browning, Megan Morsheimer, Stefanie Henriet, João Farela Neves, Donald Cuong Vinh, Laia Alsina, Anete Grumach, Pere Soler-Palacin, Thomas Boyce, Fatih Celmeli, Ekaterini Goudouris, Grant Hayman, Richard Herriot…
    Citation: Orphanet Journal of Rare Diseases 2016 11:110
    Content type: Research Published on:

  25. Erdheim-Chester disease (ECD) is a rare non-Langerhans histiocytosis characterized by systemic inflammation and granulomatous infiltration of multiple organs including the central nervous system (CNS), bones, ...

    Authors: Eli L. Diamond, Vaios Hatzoglou, Sneha Patel, Omar Abdel-Wahab, Raajit Rampal, David M. Hyman, Andrei I. Holodny and Ashish Raj
    Citation: Orphanet Journal of Rare Diseases 2016 11:109
    Content type: Letter to the Editor Published on:

  26. Primary congenital glaucoma (PCG) and early onset glaucomas are one of the major causes of children and young adult blindness worldwide. Both autosomal recessive and dominant inheritance have been described wi...

    Authors: Lucia Mauri, Steffen Uebe, Heinrich Sticht, Urs Vossmerbaeumer, Nicole Weisschuh, Emanuela Manfredini, Edoardo Maselli, Mariacristina Patrosso, Robert N. Weinreb, Silvana Penco, André Reis and Francesca Pasutto
    Citation: Orphanet Journal of Rare Diseases 2016 11:108
    Content type: Research Published on:

  27. Rare diseases, also referred to as orphan diseases, are characterised by their low prevalence with majority of them are chronically debilitating and life threatening. Given the low prevalence and the widely di...

    Authors: Asrul Akmal Shafie, Nathorn Chaiyakunapruk, Azuwana Supian, Jeremy Lim, Matt Zafra and Mohamed Azmi Ahmad Hassali
    Citation: Orphanet Journal of Rare Diseases 2016 11:107
    Content type: Research Published on:

  28. Huntington’s disease (HD) is a devastating brain disorder with no effective treatment or cure available. The scarcity of brain tissue makes it hard to study changes in the brain and impossible to perform longi...

    Authors: Eleni Mina, Willeke van Roon-Mom, Kristina Hettne, Erik van Zwet, Jelle Goeman, Christian Neri, Peter A.C. ’t Hoen, Barend Mons and Marco Roos
    Citation: Orphanet Journal of Rare Diseases 2016 11:97
    Content type: Research Published on:

  29. Rapid-onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation (ROHHAD) is a rare disease with a high mortality rate. Although nocturnal hypoventilation (NH) is central to ROHHA...

    Authors: Diana Reppucci, Jill Hamilton, E Ann Yeh, Sherri Katz, Suhail Al-Saleh and Indra Narang
    Citation: Orphanet Journal of Rare Diseases 2016 11:106
    Content type: Research Published on:

  30. Mitochondrial myopathy severely affects skeletal muscle structure and function resulting in defective oxidative phosphorylation. However, the major pathomechanisms and therewith effective treatment approaches ...

    Authors: Saskia Maria Gehrig, Violeta Mihaylova, Sebastian Frese, Sandro Manuel Mueller, Maria Ligon-Auer, Christina M. Spengler, Jens A. Petersen, Carsten Lundby and Hans H. Jung
    Citation: Orphanet Journal of Rare Diseases 2016 11:105
    Content type: Research Published on:

  31. The nosological assignment of congenital ocular motor apraxia type Cogan (COMA) is still controversial. While regarded as a distinct entity by some authorities including the Online Mendelian Inheritance in Man...

    Authors: Sarah Wente, Simone Schröder, Johannes Buckard, Hans-Martin Büttel, Florian von Deimling, Wilfried Diener, Martin Häussler, Susanne Hübschle, Silvia Kinder, Gerhard Kurlemann, Christoph Kretzschmar, Michael Lingen, Wiebke Maroske, Dirk Mundt, Iciar Sánchez-Albisua, Jürgen Seeger…
    Citation: Orphanet Journal of Rare Diseases 2016 11:104
    Content type: Research Published on:

  32. Type 1 autoimmune pancreatitis (AIP) is clinically characterized by a response to steroid therapy. Despite having a favorable prognosis, AIP has a high relapse rate and factors predicting relapse in AIP patien...

    Authors: Yoshinori Ohno, Teru Kumagi, Tomoyuki Yokota, Nobuaki Azemoto, Yoshinori Tanaka, Kazuhiro Tange, Nobu Inada, Hideki Miyata, Yoshiki Imamura, Mitsuhito Koizumi, Taira Kuroda and Yoichi Hiasa
    Citation: Orphanet Journal of Rare Diseases 2016 11:103
    Content type: Research Published on:

  33. Red cell distribution width (RDW), a classical parameter used in the differential diagnosis of anemia, has recently been recognized as a marker of chronic inflammation and high levels of oxidative stress (OS)....

    Authors: Rosa Sousa, Cristina Gonçalves, Isabel Couto Guerra, Emília Costa, Ana Fernandes, Maria do Bom Sucesso, Joana Azevedo, Alfredo Rodriguez, Rocio Rius, Carlos Seabra, Fátima Ferreira, Letícia Ribeiro, Anabela Ferrão, Sérgio Castedo, Esmeralda Cleto, Jorge Coutinho…
    Citation: Orphanet Journal of Rare Diseases 2016 11:102
    Content type: Research Published on:

  34. RAS/MAPK pathway germline mutations were described in Rasopathies, a class of rare genetic syndromes combining facial abnormalities, heart defects, short stature, skin and genital abnormalities, and mental ret...

    Authors: Brigitte Gilbert-Dussardier, Audrey Briand-Suleau, Ingrid Laurendeau, Frédéric Bilan, Hélène Cavé, Alain Verloes, Michel Vidaud, Dominique Vidaud and Eric Pasmant
    Citation: Orphanet Journal of Rare Diseases 2016 11:101
    Content type: Letter to the Editor Published on:

  35. Pontocerebellar hypoplasia type 2 (PCH2) is caused by a defect in the TSEN54-gene and leads to severe and early disruption of brain development, especially of cerebellum and pons. The aim of this work was to quan...

    Authors: Kaspar Ekert, Samuel Groeschel, Iciar Sánchez-Albisua, Saskia Frölich, Andrea Dieckmann, Corinna Engel and Ingeborg Krägeloh-Mann
    Citation: Orphanet Journal of Rare Diseases 2016 11:100
    Content type: Research Published on:

  36. Pompe disease is a progressive metabolic myopathy. Disease progression is characterized, among other features, by progressive dysfunction of the voice apparatus. The aim of this study was to employ electroglot...

    Authors: Krzysztof Szklanny, Ryszard Gubrynowicz, Katarzyna Iwanicka-Pronicka and Anna Tylki-Szymańska
    Citation: Orphanet Journal of Rare Diseases 2016 11:99
    Content type: Research Published on:

  37. Hereditary spastic paraparesis (HSP) is a rare neurodegenerative condition characterized by slowly progressive spastic weakness of the lower limbs and urinary sphincter dysfunction. Complex HSP involves additi...

    Authors: Krister W. Fjermestad, Øivind J. Kanavin, Eva E. Næss, Lise B. Hoxmark and Grete Hummelvoll
    Citation: Orphanet Journal of Rare Diseases 2016 11:98
    Content type: Research Published on:

  38. Hematopoietic stem cell transplants, alongside enzyme replacement therapy and good multi-disciplinary care, have dramatically improved the life expectancy in children with Mucopolysaccharidosis (MPS) I, with b...

    Authors: A. Soni-Jaiswal, J. Mercer, S. A. Jones, I. A. Bruce and P. Callery
    Citation: Orphanet Journal of Rare Diseases 2016 11:96
    Content type: Research Published on:

  41. Hematopoietic stem cell transplantation (HSCT) is the treatment of choice for young Hurler patients. Despite halting of neurocognitive decline and improvement of life expectancy, the beneficial effect on the s...

    Authors: Mona Schmidt, Sandra Breyer, Ulrike Löbel, Sinef Yarar, Ralf Stücker, Kurt Ullrich, Ingo Müller and Nicole Muschol
    Citation: Orphanet Journal of Rare Diseases 2016 11:93
    Content type: Research Published on:

  42. Authors: Shahram Attarian, Jean-Michel Vallat, Laurent Magy, Benoît Funalot, Pierre-Marie Gonnaud, Arnaud Lacour, Yann Péréon, Odile Dubourg, Jean Pouget, Joëlle Micallef, Jérôme Franques, Marie-Noëlle Lefebvre, Karima Ghorab, Mahmoud Al-Moussawi, Vincent Tiffreau, Marguerite Preudhomme…
    Citation: Orphanet Journal of Rare Diseases 2016 11:92
    Content type: Erratum Published on:

    The original article was published in Orphanet Journal of Rare Diseases 2014 9:199

  43. Myosin heavy chain 7 (MYH7)-related myopathies are emerging as an important group of muscle diseases of childhood and adulthood, with variable clinical and histopathological expression depending on the type and l...

    Authors: C. Fiorillo, G. Astrea, M. Savarese, D. Cassandrini, G. Brisca, F. Trucco, M. Pedemonte, R. Trovato, L. Ruggiero, L. Vercelli, A. D’Amico, G. Tasca, M. Pane, M. Fanin, L. Bello, P. Broda…
    Citation: Orphanet Journal of Rare Diseases 2016 11:91
    Content type: Research Published on:

  44. TRNT1 (CCA-adding transfer RNA nucleotidyl transferase) enzyme deficiency is a new metabolic disease caused by defective post-transcriptional modification of mitochondrial and cytosolic transfer RNAs (tRNAs).

    Authors: Yehani Wedatilake, Rojeen Niazi, Elisa Fassone, Christopher A. Powell, Sarah Pearce, Vincent Plagnol, José W. Saldanha, Robert Kleta, W Kling Chong, Emma Footitt, Philippa B. Mills, Jan-Willem Taanman, Michal Minczuk, Peter T. Clayton and Shamima Rahman
    Citation: Orphanet Journal of Rare Diseases 2016 11:90
    Content type: Research Published on:

  45. Achondroplasia is a well-defined and common bone dysplasia. Genotype- and phenotype-level correlations have been found between the clinical symptoms of achondroplasia and achondroplasia-specific FGFR3 mutations.

    Authors: Haiming Yuan, Linhuan Huang, Xizi Hu, Qian Li, Xiaofang Sun, Yingjun Xie, Shu Kong and Xiaoman Wang
    Citation: Orphanet Journal of Rare Diseases 2016 11:89
    Content type: Research Published on:

  46. The aim of the present study was to assess manifestations of and applied treatment concepts for females with Fabry disease (FD) according to the current European Fabry Guidelines.

    Authors: Malte Lenders, Julia B. Hennermann, Christine Kurschat, Arndt Rolfs, Sima Canaan-Kühl, Claudia Sommer, Nurcan Üçeyler, Christoph Kampmann, Nesrin Karabul, Anne-Katrin Giese, Thomas Duning, Jörg Stypmann, Johannes Krämer, Frank Weidemann, Stefan-Martin Brand, Christoph Wanner…
    Citation: Orphanet Journal of Rare Diseases 2016 11:88
    Content type: Research Published on:

  47. Hereditary Tyrosinemia type 1 (HT1) is a rare metabolic disorder caused by a defect in the enzyme Fumarylacetoacetate Hydrolase. Due to this defect, toxic products accumulate which, in turn, cause liver and ki...

    Authors: Willem G. van Ginkel, Rianne Jahja, Stephan C. J. Huijbregts, Anne Daly, Anita MacDonald, Corinne De Laet, David Cassiman, François Eyskens, Irene M. L. W. Körver-Keularts, Philippe J. Goyens, Patrick J. McKiernan and Francjan J. van Spronsen
    Citation: Orphanet Journal of Rare Diseases 2016 11:87
    Content type: Research Published on:

  49. Mucopolysaccharidosis type II (MPS II) is an X-linked recessive, multisystemic lysosomal storage disorder caused by a deficiency of iduronate-2-sulfatase. MPS II has a variable age of onset and variable rate o...

    Authors: Hsiang-Yu Lin, Chih-Kuang Chuang, Yu-Hsiu Huang, Ru-Yi Tu, Fang-Ju Lin, Shio Jean Lin, Pao Chin Chiu, Dau-Ming Niu, Fuu-Jen Tsai, Wuh-Liang Hwu, Yin-Hsiu Chien, Ju-Li Lin, Yen-Yin Chou, Wen-Hui Tsai, Tung-Ming Chang and Shuan-Pei Lin
    Citation: Orphanet Journal of Rare Diseases 2016 11:85
    Content type: Research Published on:

  50. Type I congenital disorders of glycosylation (CDG-I) are mostly complex multisystemic diseases associated with hypoglycosylated serum glycoproteins. A subgroup harbour mutations in genes necessary for the bios...

    Authors: S. Sabry, S. Vuillaumier-Barrot, E. Mintet, M. Fasseu, V. Valayannopoulos, D. Héron, N. Dorison, C. Mignot, N. Seta, I. Chantret, T. Dupré and S. E. H. Moore
    Citation: Orphanet Journal of Rare Diseases 2016 11:84
    Content type: Research Published on:
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  • ISSN: 1750-1172 (electronic)

Orphanet Journal of Rare Diseases

ISSN: 1750-1172