Orphanet Journal of Rare Diseases | Home page

Orphanet Journal of Rare Diseases | Home page

Orphanet Journal of Rare Diseases

The following new articles have just been published in Orphanet Journal of Rare Diseases RESEARCH Fatal pitfalls in newborn screening for mitochondrial trifunctional protein (MTP)/long-chain 3-Hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency Amelie S. Lotz-Havla, Wulf Röschinger, Katharina Schiergens, Katharina Singer, Daniela Karall, Vassiliki Konstantopoulou, Saskia B. Wortmann and Esther M. Maier Orphanet Journal of Rare Diseases 2018, 13:122 | Published on: 20 July 2018 Full Text | PDF RESEARCH ROHHAD and Prader-Willi syndrome (PWS): clinical and genetic comparison Sarah F. Barclay, Casey M. Rand, Lisa Nguyen, Richard J. A. Wilson, Rachel Wevrick, William T. Gibson, N. Torben Bech-Hansen and Debra E. Weese-Mayer Orphanet Journal of Rare Diseases 2018, 13:124 | Published on: 20 July 2018 Full Text | PDF RESEARCH The burden of congenital hyperinsulinism in the United Kingdom: a cost of illness study Sana Eljamel, Annabel Griffiths, Jenni Evans, Indraneel Banerjee, Khalid Hussain and Richard Thompson Orphanet Journal of Rare Diseases 2018, 13:123 | Published on: 20 July 2018 Full Text | PDF REVIEW Acid ceramidase deficiency: Farber disease and SMA-PME Fabian P. S. Yu, Samuel Amintas, Thierry Levade and Jeffrey A. Medin Orphanet Journal of Rare Diseases 2018, 13:121 | Published on: 20 July 2018 Full Text | PDF RESEARCH Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective? Birgit M. Repp, Elisa Mastantuono, Charlotte L. Alston, Manuel Schiff, Tobias B. Haack, Agnes Rötig, Anna Ardissone, Anne Lombès, Claudia B. Catarino, Daria Diodato, Gudrun Schottmann, Joanna Poulton, Alberto Burlina, An Jonckheere, Arnold Munnich, Boris Rolinski… Orphanet Journal of Rare Diseases 2018, 13:120 | Published on: 19 July 2018 Full Text | PDF RESEARCH Anatomy of the ventricular septal defect in congenital heart defects: a random association? Meriem Mostefa-Kara, Lucile Houyel and Damien Bonnet Orphanet Journal of Rare Diseases 2018, 13:118 | Published on: 18 July 2018 Full Text | PDF LETTER TO THE EDITOR MicroRNAs are appropriate in mitochondrial related hearing loss? Answer to the skepticism Arianna Di Stadio and Corrado Angelini Orphanet Journal of Rare Diseases 2018, 13:119 | Published on: 18 July 2018 Full Text | PDF RESEARCH Incidence of tuberous sclerosis and age at first diagnosis: new data and emerging trends from a national, prospective surveillance study Daniel Ebrahimi-Fakhari, Lilian Lisa Mann, Martin Poryo, Norbert Graf, Rüdiger von Kries, Beate Heinrich, Darius Ebrahimi-Fakhari, Marina Flotats-Bastardas, Ludwig Gortner, Michael Zemlin and Sascha Meyer Orphanet Journal of Rare Diseases 2018, 13:117 | Published on: 17 July 2018 Full Text | PDF REVIEW Childhood hypophosphatasia: to treat or not to treat Eric T. Rush Orphanet Journal of Rare Diseases 2018, 13:116 | Published on: 16 July 2018 Full Text | PDF

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