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  1. Authors: Libby Wood, Teresinha Evangelista, Fiona Norwood, Richard Orrell, Marita Pohlschmidt, Mark Busby, Andrew Graham, David Hilton-Jones, Cheryl Longman, Peter Lunt, Mark Roberts, Stuart Watt, Suzanne Watt, Tracey Willis and Hanns Lochmüller

    Citation: Orphanet Journal of Rare Diseases 2014 9(Suppl 1):P6

    Content type: Poster presentation

    Published on:

    This article is part of a Supplement: Volume 9 Supplement 1

  2. We studied the differences in immunoreactive trypsin (IRT) in neonatal screening for cystic fibrosis (CF) associated individually with the age of the newborn, ethnicity and environmental temperature. In this s...

    Authors: Ernesto Cortés, Ana María Roldán, Antonio Palazón-Bru, María Mercedes Rizo-Baeza, Herminia Manero and Vicente Francisco Gil-Guillén

    Citation: Orphanet Journal of Rare Diseases 2014 9:166

    Content type: Research

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  3. Severe to profound sensorineural hearing loss (SNHL) requires cochlear implantation (CI) for auditory rehabilitation. Etiologic diagnoses can contribute to candidacy selection and decision-making regarding the...

    Authors: Joo Hyun Park, Nayoung K D Kim, Ah Reum Kim, Jihye Rhee, Seung Ha Oh, Ja-Won Koo, Jae-Yong Nam, Woong-Yang Park and Byung Yoon Choi

    Citation: Orphanet Journal of Rare Diseases 2014 9:167

    Content type: Research

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  4. The Birt-Hogg-Dubé syndrome is a rare cancer susceptibility syndrome characterised by renal tumours, lung cysts and pneumothoraces, and fibrofolliculomas. It is caused by dominantly inherited mutations in FLCN. O...

    Authors: Patrick R Benusiglio, Sophie Giraud, Sophie Deveaux, Arnaud Méjean, Jean-Michel Correas, Dominique Joly, Marc-Olivier Timsit, Sophie Ferlicot, Virginie Verkarre, Caroline Abadie, Dominique Chauveau, Dominique Leroux, Marie-Françoise Avril, Jean-François Cordier and Stéphane Richard

    Citation: Orphanet Journal of Rare Diseases 2014 9:163

    Content type: Research

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  5. Allogeneic hematopoietic stem cell transplantation is mainly indicated in bone marrow dysfunction related to blood diseases, but also in some rare diseases (adrenoleucodystrophy, mitochondrial neurogastrointes...

    Authors: Marie-Christine Vantyghem, Jérôme Cornillon, Christine Decanter, Frédérique Defrance, Wassila Karrouz, Clara Leroy, Kristell Le Mapihan, Marie-Anne Couturier, Eva De Berranger, Eric Hermet, Natacha Maillard, Ambroise Marcais, Sylvie Francois, Reza Tabrizi and Ibrahim Yakoub-Agha

    Citation: Orphanet Journal of Rare Diseases 2014 9:162

    Content type: Review

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  6. In recent decades, considerable progress in diagnosis and treatment of patients with intoxication-type inborn errors of metabolism (IT-IEM) such as urea cycle disorders (UCD), organic acidurias (OA), maple syr...

    Authors: Nina A Zeltner, Martina Huemer, Matthias R Baumgartner and Markus A Landolt

    Citation: Orphanet Journal of Rare Diseases 2014 9:159

    Content type: Review

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  7. Holt-Oram syndrome (HOS) is an autosomal dominant disorder characterised by upper limb anomalies and congenital heart defects. We present epidemiological and clinical aspects of HOS patients using data from EU...

    Authors: Ingeborg Barisic, Ljubica Boban, Ruth Greenlees, Ester Garne, Diana Wellesley, Elisa Calzolari, Marie-Claude Addor, Larraitz Arriola, Jorieke EH Bergman, Paula Braz, Judith LS Budd, Miriam Gatt, Martin Haeusler, Babak Khoshnood, Kari Klungsoyr, Bob McDonnell…

    Citation: Orphanet Journal of Rare Diseases 2014 9:156

    Content type: Research

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  8. Leber’s hereditary optic neuropathy (LHON) is a mitochondrial disease that typically causes bilateral blindness in young men. Here we describe the clinical and molecular characteristics of 20 patients with dis...

    Authors: Konstantin Dimitriadis, Miriam Leonhardt, Patrick Yu-Wai-Man, Matthew Anthony Kirkman, Alex Korsten, Irenaeus F De Coo, Patrick Francis Chinnery and Thomas Klopstock

    Citation: Orphanet Journal of Rare Diseases 2014 9:158

    Content type: Research

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  9. Limb malformations are rare disorders with high genetic heterogeneity. Although multiple genes/loci have been identified in limb malformations, underlying genetic factors still remain to be determined in most ...

    Authors: Eiko Nagata, Hiroki Kano, Fumiko Kato, Rie Yamaguchi, Shinichi Nakashima, Shinichiro Takayama, Rika Kosaki, Hidefumi Tonoki, Seiji Mizuno, Satoshi Watanabe, Koh-ichiro Yoshiura, Tomoki Kosho, Tomonobu Hasegawa, Mamori Kimizuka, Atsushi Suzuki, Kenji Shimizu…

    Citation: Orphanet Journal of Rare Diseases 2014 9:125

    Content type: Research

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  10. The autosomal recessive immunodeficiency-centromeric instability-facial anomalies syndrome (ICF) is characterized by immunodeficiency, developmental delay, and facial anomalies. ICF2, caused by biallelic ZBTB24 g...

    Authors: Horst von Bernuth, Ethiraj Ravindran, Hang Du, Sebastian Fröhler, Karoline Strehl, Nadine Krämer, Lina Issa-Jahns, Borko Amulic, Olaf Ninnemann, Mei-Sheng Xiao, Katharina Eirich, Uwe Kölsch, Kathrin Hauptmann, Rainer John, Detlev Schindler, Volker Wahn…

    Citation: Orphanet Journal of Rare Diseases 2014 9:116

    Content type: Letter to the Editor

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  11. Warburg micro syndrome (WARBM) is a genetic heterogeneous disease characterized by microcephaly, intellectual disability, brain, ocular, and endocrine anomalies. WARBM1-4 can be caused by biallelic mutations o...

    Authors: Sylvie Picker-Minh, Andreas Busche, Britta Hartmann, Birgit Spors, Eva Klopocki, Christoph Hübner, Denise Horn and Angela M Kaindl

    Citation: Orphanet Journal of Rare Diseases 2014 9:113

    Content type: Letter to the Editor

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  12. The association of ovarian teratoma and anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis is a serious and potentially fatal pathology that occurs in young women and that is under-recognized. Our objecti...

    Authors: Pedro Acién, Maribel Acién, Eva Ruiz-Maciá and Carlos Martín-Estefanía

    Citation: Orphanet Journal of Rare Diseases 2014 9:157

    Content type: Review

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  13. GNE myopathy is a slowly progressive autosomal recessive myopathy caused by mutations in the GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) gene. This study aimed to (1) develop a nationw...

    Authors: Madoka Mori-Yoshimura, Yukiko K Hayashi, Naohiro Yonemoto, Harumasa Nakamura, Miho Murata, Shin’ichi Takeda, Ichizo Nishino and En Kimura

    Citation: Orphanet Journal of Rare Diseases 2014 9:150

    Content type: Research

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  14. LAM is a rare disease of women categorised by lung cysts and lymphatic abnormalities. The disease occurs sporadically or associated with Tuberous Sclerosis Complex (TSC-LAM). Angiomyolipoma, a benign tumour, p...

    Authors: Zhao W Yeoh, Vidya Navaratnam, Rupesh Bhatt, Ian McCafferty, Richard B Hubbard and Simon R Johnson

    Citation: Orphanet Journal of Rare Diseases 2014 9:151

    Content type: Research

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  15. Patients with non-transfusion-dependent thalassaemia (NTDT) have a genetic defect or combination of defects that affect haemoglobin synthesis, but which is not severe enough to require regular blood transfusio...

    Authors: Vip Viprakasit, Paul Tyan, Sarayuth Rodmai and Ali T Taher

    Citation: Orphanet Journal of Rare Diseases 2014 9:131

    Content type: Review

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  16. Loss-of-function point mutations in the cathepsin C gene are the underlying genetic event in patients with Papillon-Lefèvre syndrome (PLS). PLS neutrophils lack serine protease activity essential for cathelici...

    Authors: Sigrun Eick, Magdalena Puklo, Karina Adamowicz, Tomasz Kantyka, Pieter Hiemstra, Henning Stennicke, Arndt Guentsch, Beate Schacher, Peter Eickholz and Jan Potempa

    Citation: Orphanet Journal of Rare Diseases 2014 9:148

    Content type: Research

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  17. A subset of hereditary cerebellar ataxias is inherited as autosomal recessive traits (ARCAs). Classification of recessive ataxias due to phenotypic differences in the cerebellum and cerebellar structures is co...

    Authors: Ketil Heimdal, Monica Sanchez-Guixé, Ingvild Aukrust, Jens Bollerslev, Ove Bruland, Greg Eigner Jablonski, Anne Kjersti Erichsen, Einar Gude, Jeanette A Koht, Sigrid Erdal, Torunn Fiskerstrand, Bjørn Ivar Haukanes, Helge Boman, Lise Bjørkhaug, Chantal ME Tallaksen, Per M Knappskog…

    Citation: Orphanet Journal of Rare Diseases 2014 9:146

    Content type: Research

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  18. Osteogenesis imperfecta (OI) is a hereditary disease causing reduced bone mass, increased fracture rate, long bone deformities and vertebral compressions. Additional non skeletal findings are caused by impaire...

    Authors: Heike Hoyer-Kuhn, Christian Netzer, Friederike Koerber, Eckhard Schoenau and Oliver Semler

    Citation: Orphanet Journal of Rare Diseases 2014 9:145

    Content type: Research

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  19. Niemann-Pick type C (NPC) is an autosomal recessive disease in which cholesterol and glycosphingolipids accumulate in lysosomes due to aberrant cell-transport mechanisms. It is characterized by progressive and...

    Authors: Gizely N Andrade, Sophie Molholm, John S Butler, Alice B Brandwein, Steven U Walkley and John J Foxe

    Citation: Orphanet Journal of Rare Diseases 2014 9:149

    Content type: Research

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  20. We report a 6.5 year-old female with a homozygous missense mutation in ZFYVE20, encoding Rabenosyn-5 (Rbsn-5), a highly conserved multi-domain protein implicated in receptor-mediated endocytosis. The clinical pre...

    Authors: Sylvia Stockler, Silvia Corvera, David Lambright, Kevin Fogarty, Ekaterina Nosova, Deborah Leonard, Robert Steinfeld, Cameron Ackerley, Casper Shyr, Nicolas Au, Kathrin Selby, Margot van Allen, Hilary Vallance, Ron Wevers, David Watkins, David Rosenblatt…

    Citation: Orphanet Journal of Rare Diseases 2014 9:141

    Content type: Research

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  21. Simpson-Golabi-Behmel syndrome (SGBS) is a rare overgrowth syndrome clinically characterized by multiple congenital abnormalities, pre/postnatal overgrowth, distinctive craniofacial features, macrocephaly, and...

    Authors: Jair Tenorio, Pedro Arias, Víctor Martínez-Glez, Fernando Santos, Sixto García-Miñaur, Julián Nevado and Pablo Lapunzina

    Citation: Orphanet Journal of Rare Diseases 2014 9:138

    Content type: Review

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  22. Niemann-Pick disease type C (NPC) is a rare, fatal neurovisceral disorder with autosomal recessive inheritance, and featuring striking clinical variability dependent on the age at onset of neurological symptom...

    Authors: Helena Jahnova, Lenka Dvorakova, Hana Vlaskova, Helena Hulkova, Helena Poupetova, Martin Hrebicek and Pavel Jesina

    Citation: Orphanet Journal of Rare Diseases 2014 9:140

    Content type: Research

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  23. Ten years have passed since Latvia became a Member State of the EU in 2004. As a result European regulations, including those related to rare diseases and orphan drugs, have been applied to Latvian legislative...

    Authors: Konstantins Logviss, Dainis Krievins and Santa Purvina

    Citation: Orphanet Journal of Rare Diseases 2014 9:147

    Content type: Review

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  24. Tangier disease (TD) is a rare autosomal recessive disorder, resulting from mutations in the ATP binding cassette transporter (ABCA1) gene. The deficiency of ABCA1 protein impairs high density lipoprotein (HDL...

    Authors: Annalisa Sechi, Andrea Dardis, Stefania Zampieri, Claudio Rabacchi, Paolo Zanoni, Sebastiano Calandra, Giovanna De Maglio, Stefano Pizzolitto, Valerio Maruotti, Antonio Di Muzio, Frances Platt and Bruno Bembi

    Citation: Orphanet Journal of Rare Diseases 2014 9:143

    Content type: Research

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  25. Hunter Syndrome is an X-linked lysosomal storage disorder due to the deficit of iduronate 2-sulfatase, an enzyme catalysing the degradation of the glycosaminoglycans (GAG) dermatan- and heparan-sulfate. Treatm...

    Authors: Rosella Tomanin, Alessandra Zanetti, Francesca D’Avanzo, Angelica Rampazzo, Nicoletta Gasparotto, Rossella Parini, Antonia Pascarella, Daniela Concolino, Elena Procopio, Agata Fiumara, Andrea Borgo, Anna Chiara Frigo and Maurizio Scarpa

    Citation: Orphanet Journal of Rare Diseases 2014 9:129

    Content type: Research

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  26. This article is a call for action to the relevant stakeholders to improve access to care and treatment for patients with rare diseases in the Asia-Pacific region by looking into three main areas: (a) developin...

    Authors: Swee-Sung Soon, Gilberto Lopes, Hwee-Yong Lim, Durhane Wong-Rieger, Salmah Bahri, Lucy Hickinbotham, Anand Jha, Bor-Sheng Ko, Diana MacDonell, Jasmine Roah-Fang Pwu, Ruby Shih, Ekaphop Sirachainan, Dong-Churl Suh, Janet Wale, Xiao Zhang and Hwee-Lin Wee

    Citation: Orphanet Journal of Rare Diseases 2014 9:137

    Content type: Letter to the Editor

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  27. Behcet’s disease (BD) is a well-known cause of Budd-Chiari syndrome (BCS). Data are lacking on the presentation and outcome of BCS related to BD.

    Authors: Anne Claire Desbois, Pierre Emmanuel Rautou, Lucie Biard, Nadia Belmatoug, Bertrand Wechsler, Mathieu Resche-Rigon, Virginie Zarrouk, Bruno Fantin, M Pineton de Chambrun, Patrice Cacoub, Dominique Valla, David Saadoun and Aurélie Plessier

    Citation: Orphanet Journal of Rare Diseases 2014 9:104

    Content type: Research article

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  28. Most orphan drugs do not meet traditional standards of cost-effectiveness. Yet, most orphan drugs are reimbursed, which implies that other factors are taken into account at the time of reimbursement. To increa...

    Authors: Eline Picavet, David Cassiman and Steven Simoens

    Citation: Orphanet Journal of Rare Diseases 2014 9:139

    Content type: Research

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  29. Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder with an estimated prevalence of about 1/3000, independent of ethnicity, race, or gender. Attention Deficit Hyperactivity like Disorder (ADHD)-li...

    Authors: Laurence Lion-François, François Gueyffier, Catherine Mercier, Daniel Gérard, Vania Herbillon, Isabelle Kemlin, Diana Rodriguez, Tiphanie Ginhoux, Emeline Peyric, Virginie Coutinho, Valentine Bréant, Vincent des Portes, Stéphane Pinson, Patrick Combemale and Behrouz Kassaï

    Citation: Orphanet Journal of Rare Diseases 2014 9:142

    Content type: Research

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  30. Gestational pemphigoid (pemphigoid gestationis, PG) is a rare autoimmune skin disorder occurring characteristically during pregnancy. Autoantibodies against placental BP180 (also known as BPAG2 or collagen XVI...

    Authors: Laura Huilaja, Kaarin Mäkikallio and Kaisa Tasanen

    Citation: Orphanet Journal of Rare Diseases 2014 9:136

    Content type: Review

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  31. 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

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  32. 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

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  33. Zellweger spectrum disorders are a group of autosomal recessive disorders characterized by impaired peroxisome functions. The clinical spectrum is broad, ranging from the classical most severe Zellweger syndro...

    Authors: Kevin Berendse, Marc Engelen, Gabor E Linthorst, AS Paul van Trotsenburg and Bwee Tien Poll-The

    Citation: Orphanet Journal of Rare Diseases 2014 9:133

    Content type: Letter to the Editor

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  34. 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

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  35. 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

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  36. 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

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  37. 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

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  38. 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

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  39. 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

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  40. 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

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  41. 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

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  42. 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

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  43. 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

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  44. 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

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  45. 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

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  46. 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

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  47. 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

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