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

Results: 18

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

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

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

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

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

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

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

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

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

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

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

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

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

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