Issue 5/2018
Content (18 Articles)
The phenotype of adult versus pediatric patients with inborn errors of metabolism
Jean-Marie Saudubray, Fanny Mochel
Risks and benefits of oxygen therapy
Mark J. Peters, Gareth A. Jones, Simon Eaton, Daisy Wiley, Samiran Ray
Oxygen in mitochondrial disease: can there be too much of a good thing?
Vamsi K. Mootha, Patrick F. Chinnery
Organic acidurias in adults: late complications and management
Ali Tunç Tuncel, Nikolas Boy, Marina A. Morath, Friederike Hörster, Ulrike Mütze, Stefan Kölker
Medium-chain triglycerides supplement therapy with a low-carbohydrate formula can supply energy and enhance ammonia detoxification in the hepatocytes of patients with adult–onset type II citrullinemia
Kiyoshi Hayasaka, Chikahiko Numakura, Mitsunori Yamakawa, Tetsuo Mitsui, Hisayoshi Watanabe, Hiroaki Haga, Masahide Yazaki, Hiromasa Ohira, Yasuo Ochiai, Toshiyuki Tahara, Tamio Nakahara, Noriyo Yamashiki, Takahiro Nakayama, Takashi Kon, Hiroshi Mitsubuchi, Hiroshi Yoshida
Presentation, progression, and predictors of ovarian insufficiency in classic galactosemia
Allison B. Frederick, Alison M. Zinsli, Grace Carlock, Karen Conneely, Judith L. Fridovich-Keil
Intrafamilial oocyte donation in classic galactosemia: ethical and societal aspects
M. Haskovic, W. J. Poot, R. J. T. van Golde, S. H. Benneheij, E. Oussoren, G. M. W. R. de Wert, A. Krumeich, M. Estela Rubio-Gozalbo
Treatment with chenodeoxycholic acid in cerebrotendinous xanthomatosis: clinical, neurophysiological, and quantitative brain structural outcomes
Maria del Mar Amador, Marion Masingue, Rabab Debs, Foudil Lamari, Vincent Perlbarg, Emmanuel Roze, Bertrand Degos, Fanny Mochel
Medical and financial burden of acute intermittent porphyria
Rochus A. Neeleman, Margreet A. E. M. Wagenmakers, Rita H. Koole-Lesuis, G. Sophie Mijnhout, J. H. Paul Wilson, Edith C. H. Friesema, Janneke G. Langendonk
Hepatocellular carcinoma in Gaucher disease: an international case series
Martine Regenboog, Laura van Dussen, Joanne Verheij, Neal J. Weinreb, David Santosa, Stephan vom Dahl, Dieter Häussinger, Meike N. Müller, Ali Canbay, Miriam Rigoldi, Alberto Piperno, Tama Dinur, Ari Zimran, Pramod K. Mistry, Karima Yousfi Salah, Nadia Belmatoug, David J. Kuter, Carla E. M. Hollak
Olipudase alfa for treatment of acid sphingomyelinase deficiency (ASMD): safety and efficacy in adults treated for 30 months
Melissa P. Wasserstein, George A. Diaz, Robin H. Lachmann, Marie-Hélène Jouvin, Indrani Nandy, Allena J. Ji, Ana Cristina Puga
Mucolipidosis type III, a series of adult patients
Esmee Oussoren, David van Eerd, Elaine Murphy, Robin Lachmann, Jan C. van der Meijden, Lies H. Hoefsloot, Rob Verdijk, George J. G. Ruijter, Mario Maas, Carla E. M. Hollak, Janneke G. Langendonk, Ans T. van der Ploeg, Mirjam Langeveld
Pregnancy management and outcome in patients with four different tetrahydrobiopterin disorders
O. Kuseyri, A. Weissbach, N. Bruggemann, C. Klein, M. Giżewska, D. Karall, S. Scholl-Bürgi, H. Romanowska, E. Krzywińska-Zdeb, A. A. Monavari, I. Knerr, Z. Yapıcı, V. Leuzzi, T. Opladen
Outcome of adult patients with X-linked hypophosphatemia caused by PHEX gene mutations
Douglas Chesher, Michael Oddy, Ulpee Darbar, Parag Sayal, Adrian Casey, Aidan Ryan, Annalisa Sechi, Charlotte Simister, Aoife Waters, Yehani Wedatilake, Robin H. Lachmann, Elaine Murphy
A double-blind, placebo-controlled trial of triheptanoin in adult polyglucosan body disease and open-label, long-term outcome
Raphael Schiffmann, Mary E. Wallace, Daisy Rinaldi, Isabelle Ledoux, Marie-Pierre Luton, Scott Coleman, H. Orhan Akman, Karine Martin, Jean-Yves Hogrel, Derek Blankenship, Jacob Turner, Fanny Mochel
Transplantation as disease modifying therapy in adults with inherited metabolic disorders
Sandra Sirrs, Fady Hannah-Shmouni, Stephen Nantel, James Neuberger, Eric M. Yoshida
A SEPSECS mutation in a 23-year-old woman with microcephaly and progressive cerebellar ataxia
Tessa van Dijk, Jan-Dirk Vermeij, Silvana van Koningsbruggen, Phillis Lakeman, Frank Baas, Bwee Tien Poll-The