Works matching IS 01418955 AND DT 2018 AND VI 41 AND IP 5

Results: 18

Pregnancy management and outcome in patients with four different tetrahydrobiopterin disorders.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 5, p. 849, doi. 10.1007/s10545-018-0169-0
By:
- Kuseyri, O.;
- Weissbach, A.;
- Bruggemann, N.;
- Klein, C.;
- Giżewska, M.;
- Karall, D.;
- Scholl-Bürgi, S.;
- Romanowska, H.;
- Krzywińska-Zdeb, E.;
- Monavari, A. A.;
- Knerr, I.;
- Yapıcı, Z.;
- Leuzzi, V.;
- Opladen, T.
Publication type:
Article
Editorial.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 5, p. 899, doi. 10.1007/s10545-018-0237-5
By:
- Lachmann, Robin;
- Hollak, Carla
Publication type:
Article
Mucolipidosis type III, a series of adult patients.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 5, p. 839, doi. 10.1007/s10545-018-0186-z
By:
- Oussoren, Esmee;
- van Eerd, David;
- Murphy, Elaine;
- Lachmann, Robin;
- van der Meijden, Jan C.;
- Hoefsloot, Lies H.;
- Verdijk, Rob;
- Ruijter, George J. G.;
- Maas, Mario;
- Hollak, Carla E. M.;
- Langendonk, Janneke G.;
- van der Ploeg, Ans T.;
- Langeveld, Mirjam
Publication type:
Article
Oxygen in mitochondrial disease: can there be too much of a good thing?
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 5, p. 761, doi. 10.1007/s10545-018-0210-3
By:
- Mootha, Vamsi K.;
- Chinnery, Patrick F.
Publication type:
Article
The phenotype of adult versus pediatric patients with inborn errors of metabolism.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 5, p. 753, doi. 10.1007/s10545-018-0209-9
By:
- Saudubray, Jean-Marie;
- Mochel, Fanny
Publication type:
Article
Risks and benefits of oxygen therapy.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 5, p. 757, doi. 10.1007/s10545-018-0208-x
By:
- Peters, Mark J.;
- Jones, Gareth A.;
- Eaton, Simon;
- Wiley, Daisy;
- Ray, Samiran
Publication type:
Article
Intrafamilial oocyte donation in classic galactosemia: ethical and societal aspects.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 5, p. 791, doi. 10.1007/s10545-018-0179-y
By:
- Haskovic, M.;
- Poot, W. J.;
- van Golde, R. J. T.;
- Benneheij, S. H.;
- Oussoren, E.;
- de Wert, G. M. W. R.;
- Krumeich, A.;
- Rubio-Gozalbo, M. Estela
Publication type:
Article
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.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 5, p. 777, doi. 10.1007/s10545-018-0176-1
By:
- Hayasaka, Kiyoshi;
- Numakura, Chikahiko;
- Yamakawa, Mitsunori;
- Mitsui, Tetsuo;
- Watanabe, Hisayoshi;
- Haga, Hiroaki;
- Yazaki, Masahide;
- Ohira, Hiromasa;
- Ochiai, Yasuo;
- Tahara, Toshiyuki;
- Nakahara, Tamio;
- Yamashiki, Noriyo;
- Nakayama, Takahiro;
- Kon, Takashi;
- Mitsubuchi, Hiroshi;
- Yoshida, Hiroshi
Publication type:
Article
Medical and financial burden of acute intermittent porphyria.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 5, p. 809, doi. 10.1007/s10545-018-0178-z
By:
- Neeleman, Rochus A.;
- Wagenmakers, Margreet A. E. M.;
- Koole-Lesuis, Rita H.;
- Mijnhout, G. Sophie;
- Wilson, J. H. Paul;
- Friesema, Edith C. H.;
- Langendonk, Janneke G.
Publication type:
Article
Presentation, progression, and predictors of ovarian insufficiency in classic galactosemia.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 5, p. 785, doi. 10.1007/s10545-018-0177-0
By:
- Frederick, Allison B.;
- Zinsli, Alison M.;
- Carlock, Grace;
- Conneely, Karen;
- Fridovich-Keil, Judith L.
Publication type:
Article
Outcome of adult patients with X-linked hypophosphatemia caused by PHEX gene mutations.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 5, p. 865, doi. 10.1007/s10545-018-0147-6
By:
- Chesher, Douglas;
- Oddy, Michael;
- Darbar, Ulpee;
- Sayal, Parag;
- Casey, Adrian;
- Ryan, Aidan;
- Sechi, Annalisa;
- Simister, Charlotte;
- Waters, Aoife;
- Wedatilake, Yehani;
- Lachmann, Robin H.;
- Murphy, Elaine
Publication type:
Article
A SEPSECS mutation in a 23-year-old woman with microcephaly and progressive cerebellar ataxia.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 5, p. 897, doi. 10.1007/s10545-018-0151-x
By:
- van Dijk, Tessa;
- Vermeij, Jan-Dirk;
- van Koningsbruggen, Silvana;
- Lakeman, Phillis;
- Baas, Frank;
- Poll-The, Bwee Tien
Publication type:
Article
Treatment with chenodeoxycholic acid in cerebrotendinous xanthomatosis: clinical, neurophysiological, and quantitative brain structural outcomes.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 5, p. 799, doi. 10.1007/s10545-018-0162-7
By:
- Amador, Maria del Mar;
- Masingue, Marion;
- Debs, Rabab;
- Lamari, Foudil;
- Perlbarg, Vincent;
- Roze, Emmanuel;
- Degos, Bertrand;
- Mochel, Fanny
Publication type:
Article
Hepatocellular carcinoma in Gaucher disease: an international case series.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 5, p. 819, doi. 10.1007/s10545-018-0142-y
By:
- Regenboog, Martine;
- van Dussen, Laura;
- Verheij, Joanne;
- Weinreb, Neal J.;
- Santosa, David;
- vom Dahl, Stephan;
- Häussinger, Dieter;
- Müller, Meike N.;
- Canbay, Ali;
- Rigoldi, Miriam;
- Piperno, Alberto;
- Dinur, Tama;
- Zimran, Ari;
- Mistry, Pramod K.;
- Salah, Karima Yousfi;
- Belmatoug, Nadia;
- Kuter, David J.;
- Hollak, Carla E. M.
Publication type:
Article
Transplantation as disease modifying therapy in adults with inherited metabolic disorders.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 5, p. 885, doi. 10.1007/s10545-018-0141-z
By:
- Sirrs, Sandra;
- Hannah-Shmouni, Fady;
- Nantel, Stephen;
- Neuberger, James;
- Yoshida, Eric M.
Publication type:
Article
Organic acidurias in adults: late complications and management.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 5, p. 765, doi. 10.1007/s10545-017-0135-2
By:
- Tuncel, Ali Tunç;
- Boy, Nikolas;
- Morath, Marina A.;
- Hörster, Friederike;
- Mütze, Ulrike;
- Kölker, Stefan
Publication type:
Article
A double-blind, placebo-controlled trial of triheptanoin in adult polyglucosan body disease and open-label, long-term outcome.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 5, p. 877, doi. 10.1007/s10545-017-0103-x
By:
- Schiffmann, Raphael;
- Wallace, Mary E.;
- Rinaldi, Daisy;
- Ledoux, Isabelle;
- Luton, Marie-Pierre;
- Coleman, Scott;
- Akman, H. Orhan;
- Martin, Karine;
- Hogrel, Jean-Yves;
- Blankenship, Derek;
- Turner, Jacob;
- Mochel, Fanny
Publication type:
Article
Olipudase alfa for treatment of acid sphingomyelinase deficiency (ASMD): safety and efficacy in adults treated for 30 months.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 5, p. 829, doi. 10.1007/s10545-017-0123-6
By:
- Wasserstein, Melissa P.;
- Diaz, George A.;
- Lachmann, Robin H.;
- Jouvin, Marie-Hélène;
- Nandy, Indrani;
- Ji, Allena J.;
- Puga, Ana Cristina
Publication type:
Article