Works matching IS 01418955 AND DT 2016 AND VI 39 AND IP 3

Results: 17

Modeling correlates of low bone mineral density in patients with phenylalanine hydroxylase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2016, v. 39, n. 3, p. 363, doi. 10.1007/s10545-015-9910-0

By:

Coakley, Kathryn;
Douglas, Teresa;
Goodman, Michael;
Ramakrishnan, Usha;
Dobrowolski, Steven;
Singh, Rani

Publication type:

Article

The natural history of elevated tetradecenoyl-L-carnitine detected by newborn screening in New Zealand: implications for very long chain acyl-CoA dehydrogenase deficiency screening and treatment.

Published in:

Journal of Inherited Metabolic Disease, 2016, v. 39, n. 3, p. 409, doi. 10.1007/s10545-015-9911-z

By:

Ryder, Bryony;
Knoll, Detlef;
Love, Donald;
Shepherd, Phillip;
Love, Jennifer;
Reed, Peter;
Hora, Mark;
Webster, Dianne;
Glamuzina, Emma;
Wilson, Callum

Publication type:

Article

Effects of a higher dose of alglucosidase alfa on ventilator-free survival and motor outcome in classic infantile Pompe disease: an open-label single-center study.

Published in:

Journal of Inherited Metabolic Disease, 2016, v. 39, n. 3, p. 383, doi. 10.1007/s10545-015-9912-y

By:

Gelder, C.;
Poelman, E.;
Plug, I.;
Hoogeveen-Westerveld, M.;
Beek, N.;
Reuser, A.;
Ploeg, A.

Publication type:

Article

Intracranial arterial abnormalities in patients with late onset Pompe disease (LOPD).

Published in:

Journal of Inherited Metabolic Disease, 2016, v. 39, n. 3, p. 391, doi. 10.1007/s10545-015-9913-x

By:

Montagnese, Federica;
Granata, Francesca;
Musumeci, Olimpia;
Rodolico, Carmelo;
Mondello, Stefania;
Barca, Emanuele;
Cucinotta, Maria;
Ciranni, Anna;
Longo, Marcello;
Toscano, Antonio

Publication type:

Article

Acknowledgement to referees.

Published in:: Journal of Inherited Metabolic Disease, 2016, v. 39, n. 3, p. 467, doi. 10.1007/s10545-016-9914-4
Publication type:: Article

Unique plasma metabolomic signatures of individuals with inherited disorders of long-chain fatty acid oxidation.

Published in:

Journal of Inherited Metabolic Disease, 2016, v. 39, n. 3, p. 399, doi. 10.1007/s10545-016-9915-3

By:

McCoin, Colin;
Piccolo, Brian;
Knotts, Trina;
Matern, Dietrich;
Vockley, Jerry;
Gillingham, Melanie;
Adams, Sean

Publication type:

Article

Residual N-acetyl-α-glucosaminidase activity in fibroblasts correlates with disease severity in patients with mucopolysaccharidosis type IIIB.

Published in:

Journal of Inherited Metabolic Disease, 2016, v. 39, n. 3, p. 437, doi. 10.1007/s10545-016-9916-2

By:

Meijer, O.;
Welling, L.;
Valstar, M.;
Hoefsloot, L.;
Brüggenwirth, H.;
Ploeg, A.;
Ruijter, G.;
Wagemans, T.;
Wijburg, F.;
Vlies, N.

Publication type:

Article

Social-cognitive functioning and social skills in patients with early treated phenylketonuria: a PKU-COBESO study.

Published in:

Journal of Inherited Metabolic Disease, 2016, v. 39, n. 3, p. 355, doi. 10.1007/s10545-016-9918-0

By:

Jahja, Rianne;
Spronsen, Francjan;
Sonneville, Leo;
Meere, Jaap;
Bosch, Annet;
Hollak, Carla;
Rubio-Gozalbo, M.;
Brouwers, Martijn;
Hofstede, Floris;
Vries, Maaike;
Janssen, Mirian;
Ploeg, Ans;
Langendonk, Janneke;
Huijbregts, Stephan

Publication type:

Article

Altered mTOR signalling in nephropathic cystinosis.

Published in:

Journal of Inherited Metabolic Disease, 2016, v. 39, n. 3, p. 457, doi. 10.1007/s10545-016-9919-z

By:

Ivanova, Ekaterina;
Heuvel, Lambertus;
Elmonem, Mohamed;
Smedt, Humbert;
Missiaen, Ludwig;
Pastore, Anna;
Mekahli, Djalila;
Bultynck, Greet;
Levtchenko, Elena

Publication type:

Article

Molecular basis for globotriaosylceramide regulation and enzyme uptake in immortalized aortic endothelial cells from Fabry mice.

Published in:

Journal of Inherited Metabolic Disease, 2016, v. 39, n. 3, p. 447, doi. 10.1007/s10545-016-9920-6

By:

Meng, Xing-Li;
Day, Taniqua;
McNeill, Nathan;
Ashcraft, Paula;
Frischmuth, Thomas;
Cheng, Seng;
Liu, Zhi-Ping;
Shen, Jin-Song;
Schiffmann, Raphael

Publication type:

Article

On the phenotypic spectrum of serine biosynthesis defects.

Published in:

Journal of Inherited Metabolic Disease, 2016, v. 39, n. 3, p. 373, doi. 10.1007/s10545-016-9921-5

By:

El-Hattab, Ayman;
Shaheen, Ranad;
Hertecant, Jozef;
Galadari, Hassan;
Albaqawi, Badi;
Nabil, Amira;
Alkuraya, Fowzan

Publication type:

Article

Mitochondrial dysfunction in liver failure requiring transplantation.

Published in:

Journal of Inherited Metabolic Disease, 2016, v. 39, n. 3, p. 427, doi. 10.1007/s10545-016-9927-z

By:

Lane, Maria;
Boczonadi, Veronika;
Bachtari, Sahar;
Gomez-Duran, Aurora;
Langer, Thorsten;
Griffiths, Alexandra;
Kleinle, Stephanie;
Dineiger, Christine;
Abicht, Angela;
Holinski-Feder, Elke;
Schara, Ulrike;
Gerner, Patrick;
Horvath, Rita

Publication type:

Article

Clinical phenotype, biochemical profile, and treatment in 19 patients with arginase 1 deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2016, v. 39, n. 3, p. 331, doi. 10.1007/s10545-016-9928-y

By:

Huemer, Martina;
Carvalho, Daniel;
Brum, Jaime;
Ünal, Özlem;
Coskun, Turgay;
Weisfeld-Adams, James;
Schrager, Nina;
Scholl-Bürgi, Sabine;
Schlune, Andrea;
Donner, Markus;
Hersberger, Martin;
Gemperle, Claudio;
Riesner, Brunhilde;
Ulmer, Hanno;
Häberle, Johannes;
Karall, Daniela

Publication type:

Article

Acute cortical deafness in a child with MELAS syndrome.

Published in:

Journal of Inherited Metabolic Disease, 2016, v. 39, n. 3, p. 465, doi. 10.1007/s10545-016-9929-x

By:

Pittet, Marie;
Idan, Roni;
Kern, Ilse;
Guinand, Nils;
Van, Hélène;
Toso, Seema;
Fluss, Joël

Publication type:

Article

The pleiotropic effects of decanoic acid treatment on mitochondrial function in fibroblasts from patients with complex I deficient Leigh syndrome.

Published in:

Journal of Inherited Metabolic Disease, 2016, v. 39, n. 3, p. 415, doi. 10.1007/s10545-016-9930-4

By:

Kanabus, Marta;
Fassone, Elisa;
Hughes, Sean;
Bilooei, Sara;
Rutherford, Tricia;
Donnell, Maura;
Heales, Simon;
Rahman, Shamima

Publication type:

Article

Recommendations and guidelines in the JIMD: suggested procedures and avoidance of conflicts of interest.

Published in:

2016

By:

Zschocke, Johannes;
Baumgartner, Matthias;
Morava, Eva;
Patterson, Marc;
Peters, Verena;
Rahman, Shamima

Publication type:

Editorial

Impact of age at onset and newborn screening on outcome in organic acidurias.

Published in:

Journal of Inherited Metabolic Disease, 2016, v. 39, n. 3, p. 341, doi. 10.1007/s10545-015-9907-8

By:

Heringer, Jana;
Valayannopoulos, Vassili;
Lund, Allan;
Wijburg, Frits;
Freisinger, Peter;
Barić, Ivo;
Baumgartner, Matthias;
Burgard, Peter;
Burlina, Alberto;
Chapman, Kimberly;
Saladelafont, Elisenda;
Karall, Daniela;
Mühlhausen, Chris;
Riches, Victoria;
Schiff, Manuel;
Sykut-Cegielska, Jolanta;
Walter, John;
Zeman, Jiri;
Chabrol, Brigitte;
Kölker, Stefan

Publication type:

Article