Works matching IS 01418955 AND DT 2014 AND VI 37 AND IP 3

Results: 18

Human pyrroline-5-carboxylate reductase (PYCR1) acts on Δ-piperideine-6-carboxylate generating L-pipecolic acid.

Published in:

Journal of Inherited Metabolic Disease, 2014, v. 37, n. 3, p. 327, doi. 10.1007/s10545-013-9673-4

By:

Struys, Eduard;
Jansen, Erwin;
Salomons, Gajja

Publication type:

Article

Natural history of Sanfilippo syndrome type A.

Published in:

Journal of Inherited Metabolic Disease, 2014, v. 37, n. 3, p. 431, doi. 10.1007/s10545-013-9661-8

By:

Buhrman, Dakota;
Thakkar, Kavita;
Poe, Michele;
Escolar, Maria

Publication type:

Article

Metabolic biology of 3-methylglutaconic acid-uria: a new perspective.

Published in:

Journal of Inherited Metabolic Disease, 2014, v. 37, n. 3, p. 359, doi. 10.1007/s10545-013-9669-0

By:

Su, Betty;
Ryan, Robert

Publication type:

Article

A suspicion index for early diagnosis and treatment of cerebrotendinous xanthomatosis.

Published in:

Journal of Inherited Metabolic Disease, 2014, v. 37, n. 3, p. 421, doi. 10.1007/s10545-013-9674-3

By:

Mignarri, Andrea;
Gallus, Gian;
Dotti, Maria;
Federico, Antonio

Publication type:

Article

Decreased cerebral spinal fluid neurotransmitter levels in Smith-Lemli-Opitz syndrome.

Published in:

Journal of Inherited Metabolic Disease, 2014, v. 37, n. 3, p. 415, doi. 10.1007/s10545-013-9672-5

By:

Sparks, S.;
Wassif, C.;
Goodwin, H.;
Conley, S.;
Lanham, D.;
Kratz, L.;
Hyland, K.;
Gropman, A.;
Tierney, E.;
Porter, F.

Publication type:

Article

Update on transcobalamin deficiency: clinical presentation, treatment and outcome.

Published in:

Journal of Inherited Metabolic Disease, 2014, v. 37, n. 3, p. 461, doi. 10.1007/s10545-013-9664-5

By:

Trakadis, Y.;
Alfares, A.;
Bodamer, O.;
Buyukavci, M.;
Christodoulou, J.;
Connor, P.;
Glamuzina, E.;
Gonzalez-Fernandez, F.;
Bibi, H.;
Echenne, B.;
Manoli, I.;
Mitchell, J.;
Nordwall, M.;
Prasad, C.;
Scaglia, F.;
Schiff, M.;
Schrewe, B.;
Touati, G.;
Tchan, M.;
Varet, B.

Publication type:

Article

Erratum to: Concordance rates of Wilson's disease phenotype among siblings.

Published in:

2014

By:

Chabik, Grzegorz;
Litwin, Tomasz;
Członkowska, Anna

Publication type:

Erratum

Natural course of Fabry disease and the effectiveness of enzyme replacement therapy: a systematic review and meta-analysis.

Published in:

Journal of Inherited Metabolic Disease, 2014, v. 37, n. 3, p. 341, doi. 10.1007/s10545-014-9677-8

By:

Rombach, Saskia;
Smid, Bouwien;
Linthorst, Gabor;
Dijkgraaf, Marcel;
Hollak, Carla

Publication type:

Article

Increased aortic stiffness and blood pressure in non-classic Pompe disease.

Published in:

Journal of Inherited Metabolic Disease, 2014, v. 37, n. 3, p. 391, doi. 10.1007/s10545-013-9667-2

By:

Wens, Stephan;
Kuperus, Esther;
Mattace-Raso, Francesco;
Kruijshaar, Michelle;
Brusse, Esther;
Montfort, Kees;
Boer, Marjan;
Sijbrands, Eric;
Ploeg, Ans;
Doorn, Pieter

Publication type:

Article

Dietary triheptanoin rescues oligodendrocyte loss, dysmyelination and motor function in the nur7 mouse model of Canavan disease.

Published in:

Journal of Inherited Metabolic Disease, 2014, v. 37, n. 3, p. 369, doi. 10.1007/s10545-013-9663-6

By:

Francis, Jeremy;
Markov, Vladimir;
Leone, Paola

Publication type:

Article

Muscle MRI in patients with long-chain fatty acid oxidation disorders.

Published in:

Journal of Inherited Metabolic Disease, 2014, v. 37, n. 3, p. 405, doi. 10.1007/s10545-013-9666-3

By:

Diekman, Eugene;
Pol, W.;
Nievelstein, Rutger;
Houten, Sander;
Wijburg, Frits;
Visser, Gepke

Publication type:

Article

Treatment effect of coenzyme Q and an antioxidant cocktail in fibroblasts of patients with Sanfilippo disease.

Published in:

Journal of Inherited Metabolic Disease, 2014, v. 37, n. 3, p. 439, doi. 10.1007/s10545-013-9668-1

By:

Matalonga, Leslie;
Arias, Angela;
Coll, María;
Garcia-Villoria, Judit;
Gort, Laura;
Ribes, Antonia

Publication type:

Article

Abetalipoproteinemia and homozygous hypobetalipoproteinemia: a framework for diagnosis and management.

Published in:

Journal of Inherited Metabolic Disease, 2014, v. 37, n. 3, p. 333, doi. 10.1007/s10545-013-9665-4

By:

Lee, Jooho;
Hegele, Robert

Publication type:

Article

Growth in patients with mucopolysaccharidosis type III (Sanfilippo disease).

Published in:

Journal of Inherited Metabolic Disease, 2014, v. 37, n. 3, p. 447, doi. 10.1007/s10545-013-9658-3

By:

Ruijter, J.;
Broere, L.;
Mulder, M.;
Ploeg, A.;
Rubio-Gozalbo, M.;
Wortmann, S.;
Visser, G.;
Wijburg, F.

Publication type:

Article

Clinical features and ETFDH mutation spectrum in a cohort of 90 Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2014, v. 37, n. 3, p. 399, doi. 10.1007/s10545-013-9671-6

By:

Xi, Jianying;
Wen, Bing;
Lin, Jie;
Zhu, Wenhua;
Luo, Sushan;
Zhao, Chongbo;
Li, Duoling;
Lin, Pengfei;
Lu, Jiahong;
Yan, Chuanzhu

Publication type:

Article

Long-term clinical outcome, therapy and mild mitochondrial dysfunction in hyperprolinemia.

Published in:

Journal of Inherited Metabolic Disease, 2014, v. 37, n. 3, p. 383, doi. 10.1007/s10545-013-9660-9

By:

Ven, Steffi;
Gardeitchik, Thatjana;
Kouwenberg, Dorus;
Kluijtmans, Leo;
Wevers, Ron;
Morava, Eva

Publication type:

Article

Valproyl-CoA inhibits the activity of ATP- and GTP-dependent succinate:CoA ligases.

Published in:

Journal of Inherited Metabolic Disease, 2014, v. 37, n. 3, p. 353, doi. 10.1007/s10545-013-9657-4

By:

Luís, Paula;
Ruiter, Jos;
IJlst, Lodewijk;
Almeida, Isabel;
Duran, Marinus;
Wanders, Ronald;
Silva, Margarida

Publication type:

Article

Prevalence of Fabry disease in male patients with unexplained left ventricular hypertrophy in primary cardiology practice: prospective Fabry cardiomyopathy screening study (FACSS).

Published in:

Journal of Inherited Metabolic Disease, 2014, v. 37, n. 3, p. 455, doi. 10.1007/s10545-013-9659-2

By:

Palecek, Tomas;
Honzikova, Jitka;
Poupetova, Helena;
Vlaskova, Hana;
Kuchynka, Petr;
Golan, Lubor;
Magage, Sudheera;
Linhart, Ales

Publication type:

Article