Works matching IS 01418955 AND DT 2014 AND VI 37 AND IP 5

Results: 19

Unravelling the complex MRI pattern in glutaric aciduria type I using statistical models-a cohort study in 180 patients.

Published in:

Journal of Inherited Metabolic Disease, 2014, v. 37, n. 5, p. 763, doi. 10.1007/s10545-014-9676-9

By:

Garbade, Sven;
Greenberg, Cheryl;
Demirkol, Mübeccel;
Gökçay, Gülden;
Ribes, Antonia;
Campistol, Jaume;
Burlina, Alberto;
Burgard, Peter;
Kölker, Stefan

Publication type:

Article

Skin manifestations in CDG.

Published in:

Journal of Inherited Metabolic Disease, 2014, v. 37, n. 5, p. 699, doi. 10.1007/s10545-014-9678-7

By:

Rymen, D.;
Jaeken, J.

Publication type:

Article

Clinical, biochemical and molecular analysis of 13 Japanese patients with β-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation.

Published in:

Journal of Inherited Metabolic Disease, 2014, v. 37, n. 5, p. 801, doi. 10.1007/s10545-014-9682-y

By:

Nakajima, Yoko;
Meijer, Judith;
Dobritzsch, Doreen;
Ito, Tetsuya;
Meinsma, Rutger;
Abeling, Nico;
Roelofsen, Jeroen;
Zoetekouw, Lida;
Watanabe, Yoriko;
Tashiro, Kyoko;
Lee, Tomoko;
Takeshima, Yasuhiro;
Mitsubuchi, Hiroshi;
Yoneyama, Akira;
Ohta, Kazuhide;
Eto, Kaoru;
Saito, Kayoko;
Kuhara, Tomiko;
Kuilenburg, André

Publication type:

Article

Early nitisinone treatment reduces the need for liver transplantation in children with tyrosinaemia type 1 and improves post-transplant renal function.

Published in:

Journal of Inherited Metabolic Disease, 2014, v. 37, n. 5, p. 745, doi. 10.1007/s10545-014-9683-x

By:

Bartlett, David;
Lloyd, Carla;
McKiernan, Patrick;
Newsome, Phil

Publication type:

Article

Aberrant protein acylation is a common observation in inborn errors of acyl-CoA metabolism.

Published in:

Journal of Inherited Metabolic Disease, 2014, v. 37, n. 5, p. 709, doi. 10.1007/s10545-014-9684-9

By:

Pougovkina, Olga;
Brinke, Heleen;
Wanders, Ronald;
Houten, Sander;
Boer, Vincent

Publication type:

Article

Constant high adrenal FDG uptake in PET/CT associated with mitochondrial disease.

Published in:

Journal of Inherited Metabolic Disease, 2014, v. 37, n. 5, p. 863, doi. 10.1007/s10545-014-9685-8

By:

Martikainen, Mika;
Hohenthal, Ulla;
Pirilä, Laura;
Kemppainen, Jukka

Publication type:

Article

Long-term experience with enzyme replacement therapy (ERT) in MPS II patients with a severe phenotype: an international case series.

Published in:

Journal of Inherited Metabolic Disease, 2014, v. 37, n. 5, p. 823, doi. 10.1007/s10545-014-9686-7

By:

Lampe, Christina;
Bosserhoff, Ann-Kathrin;
Burton, Barbara;
Giugliani, Roberto;
Souza, Carolina;
Bittar, Camila;
Muschol, Nicole;
Olson, Rebecca;
Mendelsohn, Nancy

Publication type:

Article

Clinical presentation and outcome in a series of 88 patients with the cblC defect.

Published in:

Journal of Inherited Metabolic Disease, 2014, v. 37, n. 5, p. 831, doi. 10.1007/s10545-014-9687-6

By:

Fischer, Sabine;
Huemer, Martina;
Baumgartner, Matthias;
Deodato, Federica;
Ballhausen, Diana;
Boneh, Avihu;
Burlina, Alberto;
Cerone, Roberto;
Garcia, Paula;
Gökçay, Gülden;
Grünewald, Stephanie;
Häberle, Johannes;
Jaeken, Jaak;
Ketteridge, David;
Lindner, Martin;
Mandel, Hanna;
Martinelli, Diego;
Martins, Esmeralda;
Schwab, Karl;
Gruenert, Sarah

Publication type:

Article

Liver disease in infancy caused by oxysterol 7α-hydroxylase deficiency: successful treatment with chenodeoxycholic acid.

Published in:

Journal of Inherited Metabolic Disease, 2014, v. 37, n. 5, p. 851, doi. 10.1007/s10545-014-9695-6

By:

Dai, Dongling;
Mills, Philippa;
Footitt, Emma;
Gissen, Paul;
McClean, Patricia;
Stahlschmidt, Jens;
Coupry, Isabelle;
Lavie, Julie;
Mochel, Fanny;
Goizet, Cyril;
Mizuochi, Tatsuki;
Kimura, Akihiko;
Nittono, Hiroshi;
Schwarz, Karin;
Crick, Peter;
Wang, Yuqin;
Griffiths, William;
Clayton, Peter

Publication type:

Article

Effects of hematopoietic stem cell transplantation on acyl-CoA oxidase deficiency: a sibling comparison study.

Published in:

Journal of Inherited Metabolic Disease, 2014, v. 37, n. 5, p. 791, doi. 10.1007/s10545-014-9698-3

By:

Wang, Raymond;
Monuki, Edwin;
Powers, James;
Schwartz, Phillip;
Watkins, Paul;
Shi, Yang;
Moser, Ann;
Shrier, David;
Waterham, Hans;
Nugent, Diane;
Abdenur, Jose

Publication type:

Article

Experimental evidence for protein oxidative damage and altered antioxidant defense in patients with medium-chain acyl-CoA dehydrogenase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2014, v. 37, n. 5, p. 783, doi. 10.1007/s10545-014-9700-0

By:

Derks, Terry;
Touw, Catharina;
Ribas, Graziela;
Biancini, Giovana;
Vanzin, Camila;
Negretto, Giovanna;
Mescka, Caroline;
Reijngoud, Dirk;
Smit, G.;
Wajner, Moacir;
Vargas, Carmen

Publication type:

Article

Combined D2-/L2-hydroxyglutaric aciduria ( SLC25A1 deficiency): clinical course and effects of citrate treatment.

Published in:

Journal of Inherited Metabolic Disease, 2014, v. 37, n. 5, p. 775, doi. 10.1007/s10545-014-9702-y

By:

Mühlhausen, Chris;
Salomons, Gajja;
Lukacs, Zoltan;
Struys, Eduard;
Knaap, Marjo;
Ullrich, Kurt;
Santer, René

Publication type:

Article

Genistein increases glycosaminoglycan levels in mucopolysaccharidosis type I cell models.

Published in:

Journal of Inherited Metabolic Disease, 2014, v. 37, n. 5, p. 813, doi. 10.1007/s10545-014-9703-x

By:

Kingma, Sandra;
Wagemans, Tom;
IJlst, Lodewijk;
Wijburg, Frits;
Vlies, Naomi

Publication type:

Article

Characterization of functional domains of the cblD (MMADHC) gene product.

Published in:

Journal of Inherited Metabolic Disease, 2014, v. 37, n. 5, p. 841, doi. 10.1007/s10545-014-9709-4

By:

Jusufi, Jehona;
Suormala, Terttu;
Burda, Patricie;
Fowler, Brian;
Froese, D.;
Baumgartner, Matthias

Publication type:

Article

X-linked creatine transporter deficiency: clinical aspects and pathophysiology.

Published in:

Journal of Inherited Metabolic Disease, 2014, v. 37, n. 5, p. 715, doi. 10.1007/s10545-014-9713-8

By:

Kamp, Jiddeke;
Mancini, Grazia;
Salomons, Gajja

Publication type:

Article

Use of sapropterin dihydrochloride in maternal phenylketonuria. A European experience of eight cases.

Published in:

Journal of Inherited Metabolic Disease, 2014, v. 37, n. 5, p. 753, doi. 10.1007/s10545-014-9716-5

By:

Feillet, François;
Muntau, Ania;
Debray, François-Guillaume;
Lotz-Havla, Amelie;
Puchwein-Schwepcke, Alexandra;
Fofou-Caillierez, Ma'atem;
Spronsen, Francjan;
Trefz, Fritz

Publication type:

Article

Inborn errors of purine metabolism: clinical update and therapies.

Published in:

Journal of Inherited Metabolic Disease, 2014, v. 37, n. 5, p. 669, doi. 10.1007/s10545-014-9731-6

By:

Balasubramaniam, Shanti;
Duley, John;
Christodoulou, John

Publication type:

Article

Inborn errors of pyrimidine metabolism: clinical update and therapy.

Published in:

Journal of Inherited Metabolic Disease, 2014, v. 37, n. 5, p. 687, doi. 10.1007/s10545-014-9742-3

By:

Balasubramaniam, Shanti;
Duley, John;
Christodoulou, John

Publication type:

Article

Pharmacologic inhibition of L-tyrosine degradation ameliorates cerebral dopamine deficiency in murine phenylketonuria (PKU).

Published in:

Journal of Inherited Metabolic Disease, 2014, v. 37, n. 5, p. 735, doi. 10.1007/s10545-013-9675-2

By:

Harding, Cary;
Winn, Shelley;
Gibson, K.;
Arning, Erland;
Bottiglieri, Teodoro;
Grompe, Markus

Publication type:

Article