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Orphanet Journal of Rare Diseases


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  1. Content type: Review

    Hereditary ATTR (ATTRm) amyloidosis (also called transthyretin-type familial amyloid polyneuropathy [ATTR-FAP]) is an autosomal-dominant, adult-onset, rare systemic disorder predominantly characterized by irre...

    Authors: Yoshiki Sekijima, Mitsuharu Ueda, Haruki Koike, Sonoko Misawa, Tomonori Ishii and Yukio Ando

    Citation: Orphanet Journal of Rare Diseases 2018 13:6

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  2. Content type: Research

    Neurofibromatosis type 1 (NF1) is a dominantly inherited Rasopathy caused by mutations in the NF1 gene on chromosome 17. NF1 has been connected to congenital anomalies, e.g., in the skeletal and cardiovascular sy...

    Authors: Jussi Leppävirta, Roope A. Kallionpää, Elina Uusitalo, Tero Vahlberg, Minna Pöyhönen, Juha Peltonen and Sirkku Peltonen

    Citation: Orphanet Journal of Rare Diseases 2018 13:5

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  3. Content type: Research

    Rett syndrome is caused by a pathogenic mutation in the MECP2 gene with major consequences for motor and cognitive development. One of the effects of impaired MECP2 function is reduced production of Brain Derived...

    Authors: Jenny Downs, Jenny Rodger, Chen Li, Xuesong Tan, Nan Hu, Kingsley Wong, Nicholas de Klerk and Helen Leonard

    Citation: Orphanet Journal of Rare Diseases 2018 13:3

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  4. Content type: Research

    TMEM199 deficiency was recently shown in four patients to cause liver disease with steatosis, elevated serum transaminases, cholesterol and alkaline phosphatase and abnormal protein glycosylation. There is no inf...

    Authors: Pietro Vajro, Katarzyna Zielinska, Bobby G. Ng, Marco Maccarana, Per Bengtson, Marco Poeta, Claudia Mandato, Elisa D’Acunto, Hudson H. Freeze and Erik A. Eklund

    Citation: Orphanet Journal of Rare Diseases 2018 13:4

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  5. Content type: Research

    Rare diseases are often un- or misdiagnosed for extended periods, resulting in a long diagnostic delay that may significantly add to the burden of the disease. An early diagnosis is particularly essential if a...

    Authors: Gé-Ann Kuiper, Olga L. M. Meijer, Eveline J. Langereis and Frits A. Wijburg

    Citation: Orphanet Journal of Rare Diseases 2018 13:2

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  6. Content type: Position statement

    When there is no authorized on- or in absence even no off-label treatment for patients with rare diseases, pharmacists have to compound medicinal products to meet the patients special needs. However it is impo...

    Authors: Marc Dooms and Maria Carvalho

    Citation: Orphanet Journal of Rare Diseases 2018 13:1

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  7. Content type: Review

    Health Related Quality of Life (HR-QoL) Patient reported outcome measures (PROMs) have high utility in evaluation of new interventions in genodermatoses, however inconsistent standards of development and valid...

    Authors: John W. Frew, Mark Davidson and Dedee F. Murrell

    Citation: Orphanet Journal of Rare Diseases 2017 12:189

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  8. Content type: Review

    Patients and their families have become more active in healthcare systems and research. The value of patient involvement is particularly relevant in the area of rare diseases, where patients face delayed diagn...

    Authors: Andrea Young, Devidas Menon, Jackie Street, Walla Al-Hertani and Tania Stafinski

    Citation: Orphanet Journal of Rare Diseases 2017 12:188

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  9. Content type: Research

    The aim of the present study was to establish a non-invasive, fast and robust enzymatic assay to confirm fatty acid oxidation defects (FAOD) in humans following informative newborn-screening or for selective s...

    Authors: Nils Janzen, Alejandro D. Hofmann, Gunnar Schmidt, Anibh M. Das and Sabine Illsinger

    Citation: Orphanet Journal of Rare Diseases 2017 12:187

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  10. Content type: Letter to the Editor

    Multiple cutaneous neurofibromas are a hallmark of neurofibromatosis 1 (NF1). They begin to appear during puberty and increase in number and volume during pregnancy, suggesting a hormonal influence. Ghrelin is...

    Authors: Rafaela E. Rozza-de-Menezes, Nicolle C. Gaglionone, Raquel M. Andrade-Losso, Orlando H. K. Siqueira, Lilian M. Almeida, Kamila da S. Peruzini, Marco A. C. Guimarães-Filho, Carolina I. Brum, Mauro Geller and Karin S. Cunha

    Citation: Orphanet Journal of Rare Diseases 2017 12:186

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  11. Content type: Review

    KBG syndrome is characterized by macrodontia of upper central incisors, distinctive craniofacial features such as triangular face, prominent nasal bridge, thin upper lip and synophrys; skeletal findings includ...

    Authors: Dayna Morel Swols, Joseph Foster II and Mustafa Tekin

    Citation: Orphanet Journal of Rare Diseases 2017 12:183

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  12. Content type: Letter to the Editor

    Congenital myasthenic syndrome caused by mutations in AGRN, a gene encoding a protein with a crucial function at the neuromuscular junction, is a rare disorder. There are few studies in this area. We here present...

    Authors: Jianying Xi, Chong Yan, Wei-Wei Liu, Kai Qiao, Jie Lin, Xia Tian, Hui Wu, Jiahong Lu, Lee-Jun Wong, David Beeson and Chongbo Zhao

    Citation: Orphanet Journal of Rare Diseases 2017 12:182

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  13. Content type: Research

    Mitochondrial dysfunction may represent a pathogenic factor in Huntington disease (HD). Physical exercise leads to enhanced mitochondrial function in healthy participants. However, data on effects of physical ...

    Authors: Sandro Manuel Mueller, Saskia Maria Gehrig, Jens A. Petersen, Sebastian Frese, Violeta Mihaylova, Maria Ligon-Auer, Natalia Khmara, Jean-Marc Nuoffer, André Schaller, Carsten Lundby, Marco Toigo and Hans H. Jung

    Citation: Orphanet Journal of Rare Diseases 2017 12:184

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  14. Content type: Letter to the Editor

    We first introduced the concept of the mTOR pathway’s involvement in congenital hyperinsulinism of infancy (CHI), based largely on morphoproteomic observations and clinical outcomes using sirolimus (rapamycin)...

    Authors: Robert E. Brown, Senthil Senniappan, Khalid Hussain and Mary F. McGuire

    Citation: Orphanet Journal of Rare Diseases 2017 12:181

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  15. Content type: Research

    Pompe disease is a rare, progressive, metabolic disease, and the first treatable inheritable muscle disorder. Enzyme replacement therapy (ERT) with alglucosidase alfa is disease specific and the only medicinal...

    Authors: Tim A. Kanters, Ans T. van der Ploeg, Michelle E. Kruijshaar, Dimitris Rizopoulos, W. Ken Redekop, Maureen P. M. H. Rutten-van Mӧlken and Leona Hakkaart-van Roijen

    Citation: Orphanet Journal of Rare Diseases 2017 12:179

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  16. Content type: Research

    Anorectal malformations (ARM) are rare abnormalities that occur in approximately 1 in 3000 live births with around 40% of patients presenting with isolated forms. Multiple familial cases reported, suggest unde...

    Authors: Gabriel C. Dworschak, Nadine Zwink, Eberhard Schmiedeke, Kiarasch Mortazawi, Stefanie Märzheuser, Konrad Reinshagen, Johannes Leonhardt, Barbara Gómez, Patrick Volk, Anke Rißmann, Ekkehart Jenetzky and Heiko Reutter

    Citation: Orphanet Journal of Rare Diseases 2017 12:180

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  17. Content type: Research

    The etiology of Müllerian duct anomalies (MDAs) is poorly understood at present. The HOXA11 gene is crucial for the development of the Müllerian duct. The objective of this study is to report a unique case of MDA...

    Authors: Ying Zhu, Zhi Cheng, Jing Wang, Beihong Liu, Longfei Cheng, Beili Chen, Yunxia Cao and Binbin Wang

    Citation: Orphanet Journal of Rare Diseases 2017 12:178

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  18. Content type: Research

    Mutations in the ST14 gene, encoding the serine protease matriptase, have been associated with ichthyosis-hypotrichosis syndrome (IHS), a Mendelian disorder with skin and hair manifestations which include, in add...

    Authors: Leila Youssefian, Andrew Touati, Amir Hossein Saeidian, Omid Zargari, Sirous Zeinali, Hassan Vahidnezhad and Jouni Uitto

    Citation: Orphanet Journal of Rare Diseases 2017 12:176

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  19. Content type: Research

    Spinal muscular atrophy (SMA) is a progressive, devastating disease and a leading inherited cause of infant mortality. The limited population-based literature is confined to small regional studies. Estimates o...

    Authors: Cathy Lally, Cynthia Jones, Wildon Farwell, Sandra P. Reyna, Suzanne F. Cook and W. Dana Flanders

    Citation: Orphanet Journal of Rare Diseases 2017 12:175

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  20. Content type: Review

    Cornelia de Lange Syndrome (CdLS) is a choesinopathy: a severe genetic disorder caused by mutations in the cohesin complex genes. The phenotype is characterized by typical facial dysmorphism, growth impairment...

    Authors: Laura Avagliano, Paolo Grazioli, Milena Mariani, Gaetano P. Bulfamante, Angelo Selicorni and Valentina Massa

    Citation: Orphanet Journal of Rare Diseases 2017 12:174

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  21. Content type: Research

    Late-onset Pompe disease is a rare genetic neuromuscular disorder caused by a primary deficiency of α-glucosidase and the associated accumulation of glycogen in lysosomal vacuoles. The deficiency of α-glucosid...

    Authors: Katherine Johnson, Ana Töpf, Marta Bertoli, Lauren Phillips, Kristl G. Claeys, Vidosava Rakocevic Stojanovic, Stojan Perić, Andreas Hahn, Paul Maddison, Ela Akay, Alexandra E. Bastian, Anna Łusakowska, Anna Kostera-Pruszczyk, Monkol Lek, Liwen Xu, Daniel G. MacArthur…

    Citation: Orphanet Journal of Rare Diseases 2017 12:173

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  22. Content type: Research

    Autosomal recessive hereditary spastic paraplegia (HSP) due to AP4M1 mutations is a very rare neurodevelopmental disorder reported for only a few patients.

    Authors: Conceição Bettencourt, Vincenzo Salpietro, Stephanie Efthymiou, Viorica Chelban, Deborah Hughes, Alan M. Pittman, Monica Federoff, Thomas Bourinaris, Martha Spilioti, Georgia Deretzi, Triantafyllia Kalantzakou, Henry Houlden, Andrew B. Singleton and Georgia Xiromerisiou

    Citation: Orphanet Journal of Rare Diseases 2017 12:172

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