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  1. Inherited malabsorption of cobalamin (Cbl) causes hematological and neurological abnormalities that can be fatal. Three genes have been implicated in Cbl malabsorption; yet, only about 10% of ~400-500 reported...

    Authors: Stephan M Tanner, Amy C Sturm, Elizabeth C Baack, Sandya Liyanarachchi and Albert de la Chapelle

    Citation: Orphanet Journal of Rare Diseases 2012 7:56

    Content type: Research

    Published on:

  2. Little information is available on the prevalence, geographic distribution and mutation spectrum of genetic skeletal disorders (GSDs) in China. This study systematically reviewed GSDs as defined in “Nosology a...

    Authors: Yazhou Cui, Heng Zhao, Zhenxing Liu, Chao Liu, Jing Luan, Xiaoyan Zhou and Jinxiang Han

    Citation: Orphanet Journal of Rare Diseases 2012 7:55

    Content type: Review

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  3. AL amyloidosis results from extra-cellular deposition of fibril-forming monoclonal immunoglobulin (Ig) light chains (LC) (most commonly of lambda isotype) usually secreted by a small plasma cell clone. Most pa...

    Authors: Estelle Desport, Frank Bridoux, Christophe Sirac, Sébastien Delbes, Sébastien Bender, Béatrice Fernandez, Nathalie Quellard, Corinne Lacombe, Jean-Michel Goujon, David Lavergne, Julie Abraham, Guy Touchard, Jean-Paul Fermand and Arnaud Jaccard

    Citation: Orphanet Journal of Rare Diseases 2012 7:54

    Content type: Review

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  4. Web-based interventions are effective on the patient empowerment. Guiametabolica.org constitutes an interface for people involved in inherited metabolic diseases, trying to facilitate access to information and co...

    Authors: Manuel Armayones, M Antònia Vilaseca, Júlia Cutillas, Jordi Fàbrega, Jorge Juan Fernández, Mei García, Natàlia Egea, Modesta Pousada, Beni Gómez-Zuñiga, Jaume Pérez-Payarols, Rafael Artuch, Francesc Palau and Mercedes Serrano

    Citation: Orphanet Journal of Rare Diseases 2012 7:53

    Content type: Letter to the Editor

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  5. Tunisia is a North African country of 10 million inhabitants. The native background population is Berber. However, throughout its history, Tunisia has been the site of invasions and migratory waves of allogeni...

    Authors: Lilia Romdhane, Rym Kefi, Hela Azaiez, Nizar Ben Halim, Koussay Dellagi and Sonia Abdelhak

    Citation: Orphanet Journal of Rare Diseases 2012 7:52

    Content type: Research

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  6. X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder. The disease is caused by mutations in the ABCD1 gene that encodes the peroxisomal membrane protein ALDP which is involved in the tran...

    Authors: Marc Engelen, Stephan Kemp, Marianne de Visser, Björn M van Geel, Ronald JA Wanders, Patrick Aubourg and Bwee Tien Poll-The

    Citation: Orphanet Journal of Rare Diseases 2012 7:51

    Content type: Review

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  7. Calls have been made for governments to adopt a cohesive approach to rare diseases through the development of national plans. At present, Australia does not have a national plan for rare diseases. To progress ...

    Authors: Caron Molster, Leanne Youngs, Emma Hammond and Hugh Dawkins

    Citation: Orphanet Journal of Rare Diseases 2012 7:50

    Content type: Research

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  8. Various antigen-specific immunoassays are available for the serological diagnosis of autoimmune bullous diseases. However, a spectrum of different tissue-based and monovalent antigen-specific assays is require...

    Authors: Nina van Beek, Kristin Rentzsch, Christian Probst, Lars Komorowski, Michael Kasperkiewicz, Kai Fechner, Inga M Bloecker, Detlef Zillikens, Winfried Stöcker and Enno Schmidt

    Citation: Orphanet Journal of Rare Diseases 2012 7:49

    Content type: Research

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  9. Glutamine synthetase (GS) is ubiquitously expressed in mammalian organisms and is a key enzyme in nitrogen metabolism. It is the only known enzyme capable of synthesising glutamine, an amino acid with many cri...

    Authors: Johannes Häberle, Noora Shahbeck, Khalid Ibrahim, Bernhard Schmitt, Ianina Scheer, Ruth O’Gorman, Farrukh A Chaudhry and Tawfeg Ben-Omran

    Citation: Orphanet Journal of Rare Diseases 2012 7:48

    Content type: Research

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  10. Intellectual disability (ID) is a devastating and frequent condition, affecting 2-3% of the population worldwide. Early recognition of treatable underlying conditions drastically improves health outcomes and d...

    Authors: Clara D M van Karnebeek, Roderick F A Houben, Mirafe Lafek, Wynona Giannasi and Sylvia Stockler

    Citation: Orphanet Journal of Rare Diseases 2012 7:47

    Content type: Research

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  11. Dominant Optic Atrophy (DOA) is a neuro-ophthalmic condition characterized by a bilateral degeneration of the optic nerves, causing insidious visual loss, typically starting during the first decade of life. Th...

    Authors: Guy Lenaers, Christian Hamel, Cécile Delettre, Patrizia Amati-Bonneau, Vincent Procaccio, Dominique Bonneau, Pascal Reynier and Dan Milea

    Citation: Orphanet Journal of Rare Diseases 2012 7:46

    Content type: Review

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  12. Dystrophin is a large essential protein of skeletal and heart muscle. It is a filamentous scaffolding protein with numerous binding domains. Mutations in the DMD gene, which encodes dystrophin, mostly result in t...

    Authors: Aurélie Nicolas, Céline Lucchetti-Miganeh, Rabah Ben Yaou, Jean-Claude Kaplan, Jamel Chelly, France Leturcq, Frédérique Barloy-Hubler and Elisabeth Le Rumeur

    Citation: Orphanet Journal of Rare Diseases 2012 7:45

    Content type: Research

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  13. Oculocutaneous albinism (OCA) is caused by a group of genetically heterogeneous inherited defects that result in the loss of pigmentation in the eyes, skin and hair. Mutations in the TYR, OCA2, TYRP1 and SLC45A2 ...

    Authors: Thomas J Jaworek, Tasleem Kausar, Shannon M Bell, Nabeela Tariq, Muhammad Imran Maqsood, Asma Sohail, Muhmmmad Ali, Furhan Iqbal, Shafqat Rasool, Saima Riazuddin, Rehan S Shaikh and Zubair M Ahmed

    Citation: Orphanet Journal of Rare Diseases 2012 7:44

    Content type: Research

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  14. SLC6A8, an X-linked gene, encodes the creatine transporter (CRTR) and its mutations lead to cerebral creatine (Cr) deficiency which results in mental retardation, speech and language delay, autistic-like behav...

    Authors: Annamaria Chilosi, Manuela Casarano, Alessandro Comparini, Francesca Maria Battaglia, Margherita Maria Mancardi, Cristina Schiaffino, Michela Tosetti, Vincenzo Leuzzi, Roberta Battini and Giovanni Cioni

    Citation: Orphanet Journal of Rare Diseases 2012 7:43

    Content type: Research

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  15. Complement Factor I (CFI) is a serine protease with an important role in complement alternative pathway regulation. Complete factor I deficiency is strongly associated with severe infections. Approximately 30 ...

    Authors: María Alba-Domínguez, Alberto López-Lera, Sofía Garrido, Pilar Nozal, Ignacio González-Granado, Josefa Melero, Pere Soler-Palacín, Carmen Cámara and Margarita López-Trascasa

    Citation: Orphanet Journal of Rare Diseases 2012 7:42

    Content type: Research

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  16. Cushing’s disease, or pituitary ACTH dependent Cushing’s syndrome, is a rare disease responsible for increased morbidity and mortality. Signs and symptoms of hypercortisolism are usually non specific: obesity,...

    Authors: Frederic Castinetti, Isabelle Morange, Bernard Conte-Devolx and Thierry Brue

    Citation: Orphanet Journal of Rare Diseases 2012 7:41

    Content type: Review

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  17. Interstitial lung diseases (ILDs) in children represent a heterogeneous group of rare respiratory disorders that affect the lung parenchyma. After the launch of the French Reference Centre for Rare Lung Diseas...

    Authors: Nadia Nathan, Rola Abou Taam, Ralph Epaud, Christophe Delacourt, Antoine Deschildre, Philippe Reix, Raphaël Chiron, Ulrika de Pontbriand, Jacques Brouard, Michaël Fayon, Jean-Christophe Dubus, Lisa Giovannini-Chami, François Bremont, Katia Bessaci, Cyril Schweitzer, Marie-Laure Dalphin…

    Citation: Orphanet Journal of Rare Diseases 2012 7:40

    Content type: Research

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  18. With the advent of next-generation DNA sequencing, the pace of inherited orphan disease gene identification has increased dramatically, a situation that will continue for at least the next several years. At pr...

    Authors: Chandree L Beaulieu, Mark E Samuels, Sean Ekins, Christopher R McMaster, Aled M Edwards, Adrian R Krainer, Geoffrey G Hicks, Brendan J Frey, Kym M Boycott and Alex E MacKenzie

    Citation: Orphanet Journal of Rare Diseases 2012 7:39

    Content type: Review

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  19. Krabbe disease is an autosomal recessive lysosomal storage disorder caused by mutations in the GALC gene. The most common mutation in the Caucasian population is a 30-kb deletion of exons 11 through 17. There are...

    Authors: Alice K Tanner, Ephrem L H Chin, Patricia K Duffner and Madhuri Hegde

    Citation: Orphanet Journal of Rare Diseases 2012 7:38

    Content type: Research

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  20. The need for a collaborative approach to complex inherited diseases collectively referred to as laminopathies, encouraged Italian researchers, geneticists, physicians and patients to join in the Italian Networ...

    Authors: Sara Benedetti, Pia Bernasconi, Enrico Bertini, Elena Biagini, Giuseppe Boriani, Cristina Capanni, Nicola Carboni, Giovanna Cenacchi, Marta Columbaro, Monica D'Adamo, Adele D’Amico, Maria Rosaria D’Apice, Marianna Fontana, Alessandra Gambineri, Giovanna Lattanzi, Rocco Liguori…

    Citation: Orphanet Journal of Rare Diseases 2012 7:37

    Content type: Letter to the Editor

    Published on:

  21. Niemann-Pick disease type C (NP-C) is a rare neurovisceral lysosomal lipid storage disease characterized by progressive neurological deterioration. Published data on the use of miglustat in paediatric patients...

    Authors: Bénédicte Héron, Vassili Valayannopoulos, Julien Baruteau, Brigitte Chabrol, Hélène Ogier, Philippe Latour, Dries Dobbelaere, Didier Eyer, François Labarthe, Hélène Maurey, Jean-Marie Cuisset, Thierry Billette de Villemeur, Frédéric Sedel and Marie T Vanier

    Citation: Orphanet Journal of Rare Diseases 2012 7:36

    Content type: Research

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  22. Pompe disease (Glycogen storage disease type II, GSD II, acid alpha-glucosidase deficiency, acid maltase deficiency, OMIM # 232300) is an autosomal-recessive lysosomal storage disorder due to a deficiency of a...

    Authors: Andreas Herzog, Ralf Hartung, Arnold J J Reuser, Pia Hermanns, Heiko Runz, Nesrin Karabul, Seyfullah Gökce, Joachim Pohlenz, Christoph Kampmann, Christina Lampe, Michael Beck and Eugen Mengel

    Citation: Orphanet Journal of Rare Diseases 2012 7:35

    Content type: Research

    Published on:

  23. Amelogenesis imperfecta (AI) is an inherited disorder characterized by abnormal formation of tooth enamel. Although several genes responsible for AI have been reported, not all causative genes for human AI hav...

    Authors: Taro Muto, Keiko Miyoshi, Taigo Horiguchi, Hiroko Hagita and Takafumi Noma

    Citation: Orphanet Journal of Rare Diseases 2012 7:34

    Content type: Research

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  24. The difficulty in establishing a timely correct diagnosis is a relevant matter of concern for several rare diseases. Many rare-disease-affected patients suffer from considerable diagnostic delay, mainly due to...

    Authors: Paola Pierucci, Gennaro M Lenato, Patrizia Suppressa, Patrizia Lastella, Vincenzo Triggiani, Raffaella Valerio, Mario Comelli, Daniela Salvante, Alessandro Stella, Nicoletta Resta, Giancarlo Logroscino, Francesco Resta and Carlo Sabbà

    Citation: Orphanet Journal of Rare Diseases 2012 7:33

    Content type: Research

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  25. Urea cycle disorders (UCDs) are inborn errors of ammonia detoxification/arginine synthesis due to defects affecting the catalysts of the Krebs-Henseleit cycle (five core enzymes, one activating enzyme and one ...

    Authors: Johannes Häberle, Nathalie Boddaert, Alberto Burlina, Anupam Chakrapani, Marjorie Dixon, Martina Huemer, Daniela Karall, Diego Martinelli, Pablo Sanjurjo Crespo, René Santer, Aude Servais, Vassili Valayannopoulos, Martin Lindner, Vicente Rubio and Carlo Dionisi-Vici

    Citation: Orphanet Journal of Rare Diseases 2012 7:32

    Content type: Review

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  26. Isolated 3-methylcrotonyl-CoA carboxylase (MCC) deficiency is an autosomal recessive disorder of leucine metabolism caused by mutations in MCCC1 or MCCC2 encoding the α and β subunit of MCC, respectively. The phe...

    Authors: Sarah C Grünert, Martin Stucki, Raphael J Morscher, Terttu Suormala, Celine Bürer, Patricie Burda, Ernst Christensen, Can Ficicioglu, Jürgen Herwig, Stefan Kölker, Dorothea Möslinger, Elisabetta Pasquini, René Santer, K Otfried Schwab, Bridget Wilcken, Brian Fowler…

    Citation: Orphanet Journal of Rare Diseases 2012 7:31

    Content type: Research

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  27. Since the introduction of medium-chain acyl coenzyme A dehydrogenase (MCAD) deficiency in population newborn bloodspot screening (NBS) programs, subjects have been identified with variant ACADM (gene encoding MCA...

    Authors: Catharina M L Touw, G Peter A Smit, Maaike de Vries, Johannis B C de Klerk, Annet M Bosch, Gepke Visser, Margot F Mulder, M Estela Rubio-Gozalbo, Bert Elvers, Klary E Niezen-Koning, Ronald J A Wanders, Hans R Waterham, Dirk-Jan Reijngoud and Terry G J Derks

    Citation: Orphanet Journal of Rare Diseases 2012 7:30

    Content type: Research

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  28. Cherubism is a skeletal dysplasia characterized by bilateral and symmetric fibro-osseous lesions limited to the mandible and maxilla. In most patients, cherubism is due to dominant mutations in the SH3BP2 gene on...

    Authors: Maria E Papadaki, Steven A Lietman, Michael A Levine, Bjorn R Olsen, Leonard B Kaban and Ernst J Reichenberger

    Citation: Orphanet Journal of Rare Diseases 2012 7(Suppl 1):S6

    Content type: Proceedings

    Published on:

    This article is part of a Supplement: Volume 7 Supplement 1

  29. Cherubism is a rare bone dysplasia that is characterized by symmetrical bone resorption limited to the jaws. Bone lesions are filled with soft fibrous giant cell-rich tissue that can expand and cause severe fa...

    Authors: Ernst J Reichenberger, Michael A Levine, Bjorn R Olsen, Maria E Papadaki and Steven A Lietman

    Citation: Orphanet Journal of Rare Diseases 2012 7(Suppl 1):S5

    Content type: Proceedings

    Published on:

    This article is part of a Supplement: Volume 7 Supplement 1

  30. Fibrous dysplasia (FD) is sometimes accompanied by extraskeletal manifestations that can include any combination of café-au-lait macules, hyperfunctioning endocrinopathies, such as gonadotropin-independent pre...

    Authors: Michael T Collins, Frederick R Singer and Erica Eugster

    Citation: Orphanet Journal of Rare Diseases 2012 7(Suppl 1):S4

    Content type: Proceedings

    Published on:

    This article is part of a Supplement: Volume 7 Supplement 1

  31. One of the most common complications of fibrous dysplasia of bone (FD) is bone pain. Usual pain killers are often of inadequate efficacy to control this bone pain. The mechanism of bone pain in FD remains unce...

    Authors: Roland D Chapurlat, Deborah Gensburger, Juan M Jimenez-Andrade, Joseph R Ghilardi, Marilyn Kelly and Patrick Mantyh

    Citation: Orphanet Journal of Rare Diseases 2012 7(Suppl 1):S3

    Content type: Proceedings

    Published on:

    This article is part of a Supplement: Volume 7 Supplement 1

  32. Fibrous dysplasia (FD) is a non-malignant condition caused by post-zygotic, activating mutations of the GNAS gene that results in inhibition of the differentiation and proliferation of bone-forming stromal cells ...

    Authors: JS Lee, EJ FitzGibbon, YR Chen, HJ Kim, LR Lustig, SO Akintoye, MT Collins and LB Kaban

    Citation: Orphanet Journal of Rare Diseases 2012 7(Suppl 1):S2

    Content type: Proceedings

    Published on:

    This article is part of a Supplement: Volume 7 Supplement 1

  33. The surgical management of Polyostotic Fibrous Dysplasia (FD) of bone is technically demanding. The most effective methods to manage the associated bone deformity remain unclear. The marked variation in the de...

    Authors: Robert P Stanton, Ernesto Ippolito, Dempsey Springfield, Lynn Lindaman, Shlomo Wientroub and Arabella Leet

    Citation: Orphanet Journal of Rare Diseases 2012 7(Suppl 1):S1

    Content type: Proceedings

    Published on:

    This article is part of a Supplement: Volume 7 Supplement 1

  34. Chronic obstructive pulmonary disease (COPD) is influenced by environmental and genetic factors. An important fraction of COPD cases harbor a major genetic determinant, inherited ZZ (Glu342Lys) α1-antitrypsin ...

    Authors: A-Rembert Koczulla, Danny Jonigk, Thomas Wolf, Christian Herr, Sarah Noeske, Walter Klepetko, Claus Vogelmeier, Nils von Neuhoff, Johanna Rische, Sabine Wrenger, Heiko Golpon, Robert Voswinckel, Maurizio Luisetti, Ilaria Ferrarotti, Tobias Welte and Sabina Janciauskiene

    Citation: Orphanet Journal of Rare Diseases 2012 7:29

    Content type: Research

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  35. Fanconi Anemia (FA) is a rare genetic disorder, characterized by progressive bone marrow failure and increased predisposition to cancer. Despite being highly heterogeneous, all FA patients are hypersensitive t...

    Authors: Filipa Ponte, Rosa Sousa, Ana Paula Fernandes, Cristina Gonçalves, José Barbot, Félix Carvalho and Beatriz Porto

    Citation: Orphanet Journal of Rare Diseases 2012 7:28

    Content type: Research

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  36. We previously reported the existence of a unique autosomal recessive syndrome consisting of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance mapping to chromosome 15q26.

    Authors: Bassam R Ali, Jennifer L Silhavy, Nadia A Akawi, Joseph G Gleeson and Lihadh Al-Gazali

    Citation: Orphanet Journal of Rare Diseases 2012 7:27

    Content type: Research

    Published on:

  37. In non-diabetic adult patients, hypoglycaemia may be related to drugs, critical illness, cortisol or glucagon insufficiency, non-islet cell tumour, insulinoma, or it may be surreptitious. Nevertheless, some hy...

    Authors: Claire Douillard, Karine Mention, Dries Dobbelaere, Jean-Louis Wemeau, Jean-Marie Saudubray and Marie-Christine Vantyghem

    Citation: Orphanet Journal of Rare Diseases 2012 7:26

    Content type: Review

    Published on:

  38. Loss of function mutations in 3-Hydroxyacyl-CoA Dehydrogenase (HADH) cause protein sensitive hyperinsulinaemic hypoglycaemia (HH). HADH encodes short chain 3-hydroxacyl-CoA dehydrogenase, an enzyme that catalyses...

    Authors: Amanda J Heslegrave, Ritika R Kapoor, Simon Eaton, Bernadette Chadefaux, Teoman Akcay, Enver Simsek, Sarah E Flanagan, Sian Ellard and Khalid Hussain

    Citation: Orphanet Journal of Rare Diseases 2012 7:25

    Content type: Research

    Published on:

  39. Over the past forty years the availability of coagulation factor replacement therapy has greatly contributed to the improved care of people with hemophilia. Following the blood-borne viral infections in the la...

    Authors: Massimo Franchini and Pier Mannuccio Mannucci

    Citation: Orphanet Journal of Rare Diseases 2012 7:24

    Content type: Review

    Published on:

  40. We propose the minimal definition of Dercum’s disease to be generalised overweight or obesity in combination with painful adipose tissue. The associated symptoms in Dercum’s disease include fatty deposits, eas...

    Authors: Emma Hansson, Henry Svensson and Håkan Brorson

    Citation: Orphanet Journal of Rare Diseases 2012 7:23

    Content type: Review

    Published on:

  41. Mucopolysaccharidosis type I (MPS I) is traditionally divided into three phenotypes: the severe Hurler (MPS I-H) phenotype, the intermediate Hurler-Scheie (MPS I-H/S) phenotype and the attenuated Scheie (MPS I...

    Authors: Minke H de Ru, Quirine GA Teunissen, Johanna H van der Lee, Michael Beck, Olaf A Bodamer, Lorne A Clarke, Carla E Hollak, Shuan-Pei Lin, Maria-Verónica Muñoz Rojas, Gregory M Pastores, Julian A Raiman, Maurizio Scarpa, Eileen P Treacy, Anna Tylki-Szymanska, J Edmond Wraith, Jiri Zeman…

    Citation: Orphanet Journal of Rare Diseases 2012 7:22

    Content type: Research

    Published on:

  42. Mutations in SCO2 cause cytochrome c oxidase deficiency (COX) and a fatal infantile cardioencephalomyopathy. SCO2 encodes a protein involved in COX copper metabolism; supplementation with copper salts rescues the...

    Authors: Alberto Casarin, Gianpietro Giorgi, Vanessa Pertegato, Roberta Siviero, Cristina Cerqua, Mara Doimo, Giuseppe Basso, Sabrina Sacconi, Matteo Cassina, Rosario Rizzuto, Sonja Brosel, Mercy M Davidson, Salvatore DiMauro, Eric A Schon, Maurizio Clementi, Eva Trevisson…

    Citation: Orphanet Journal of Rare Diseases 2012 7:21

    Content type: Research

    Published on:

  43. Behçet disease (BD) is a chronic, relapsing, multisystemic disorder characterized by mucocutaneous, ocular, vascular and central nervous system manifestations.

    Authors: David Saadoun and Bertrand Wechsler

    Citation: Orphanet Journal of Rare Diseases 2012 7:20

    Content type: Review

    Published on:

  44. Cystinuria (OMIM 220100) is an inborn congenital disorder characterised by a defective cystine metabolism resulting in the formation of cystine stones. Among the heterogeneous group of kidney stone diseases, c...

    Authors: Thomas Eggermann, Andreas Venghaus and Klaus Zerres

    Citation: Orphanet Journal of Rare Diseases 2012 7:19

    Content type: Review

    Published on:

  45. Pontocerebellar hypoplasia (PCH) is a heterogeneous group of diseases characterized by lack of development and/or early neurodegeneration of cerebellum and brainstem. According to clinical features, seven subt...

    Authors: Lydie Burglen, Sandra Chantot-Bastaraud, Catherine Garel, Mathieu Milh, Renaud Touraine, Ginevra Zanni, Florence Petit, Alexandra Afenjar, Cyril Goizet, Sabina Barresi, Aurélie Coussement, Christine Ioos, Leila Lazaro, Sylvie Joriot, Isabelle Desguerre, Didier Lacombe…

    Citation: Orphanet Journal of Rare Diseases 2012 7:18

    Content type: Research

    Published on:

  46. Gaucher disease (GD) is due to deficiency of the glucocerebrosidase enzyme. It is panethnic, but its presentation reveals ethnicity-specific characteristics.

    Authors: Pilar Giraldo, Pilar Alfonso, Pilar Irún, Laura Gort, Amparo Chabás, Lluïsa Vilageliu, Daniel Grinberg, Clara M Sá Miranda and Miguel Pocovi

    Citation: Orphanet Journal of Rare Diseases 2012 7:17

    Content type: Research

    Published on:

  47. Pulmonary Langerhans Cell Histiocytosis (PLCH) is a relatively uncommon lung disease that generally, but not invariably, occurs in cigarette smokers. The pathologic hallmark of PLCH is the accumulation of Lang...

    Authors: Harpreet S Suri, Eunhee S Yi, Gregorz S Nowakowski and Robert Vassallo

    Citation: Orphanet Journal of Rare Diseases 2012 7:16

    Content type: Review

    Published on:

  48. Neonatal screening for Pompe disease has been introduced in Taiwan and a few U.S. states, while other jurisdictions including some European countries are piloting or considering this screening. First-tier scre...

    Authors: Stephanie Shifra Weinreich, Tessel Rigter, Carla Geertruida van El, Wybo Jan Dondorp, Pieter Johannes Kostense, Ans T van der Ploeg, Arnold JJ Reuser, Martina Cornelia Cornel and Marloes Louise Catharina Hagemans

    Citation: Orphanet Journal of Rare Diseases 2012 7:15

    Content type: Research

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  49. Cystic fibrosis (CF) is an autosomal recessive disorder whose incidence has long been estimated as 1/2500 live births in Caucasians. Expanding implementation of newborn screening (NBS) programs now allows a be...

    Authors: Virginie Scotet, Ingrid Duguépéroux, Philippe Saliou, Gilles Rault, Michel Roussey, Marie-Pierre Audrézet and Claude Férec

    Citation: Orphanet Journal of Rare Diseases 2012 7:14

    Content type: Research

    Published on:

  50. Nijmegen breakage syndrome (NBS) is a rare autosomal recessive syndrome of chromosomal instability mainly characterized by microcephaly at birth, combined immunodeficiency and predisposition to malignancies. D...

    Authors: Krystyna H Chrzanowska, Hanna Gregorek, Bożenna Dembowska-Bagińska, Maria A Kalina and Martin Digweed

    Citation: Orphanet Journal of Rare Diseases 2012 7:13

    Content type: Review

    Published on:

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  • ISSN: 1750-1172 (electronic)

Orphanet Journal of Rare Diseases

ISSN: 1750-1172