Works matching IS 01418955 AND DT 2013 AND VI 36 AND IP 3

Results: 18

Comparative binding, endocytosis, and biodistribution of antibodies and antibody-coated carriers for targeted delivery of lysosomal enzymes to ICAM-1 versus transferrin receptor.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 3, p. 467, doi. 10.1007/s10545-012-9534-6

By:

Papademetriou, Jason;
Garnacho, Carmen;
Serrano, Daniel;
Bhowmick, Tridib;
Schuchman, Edward;
Muro, Silvia

Publication type:

Article

Metabolite proofreading, a neglected aspect of intermediary metabolism.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 3, p. 427, doi. 10.1007/s10545-012-9571-1

By:

Schaftingen, Emile;
Rzem, Rim;
Marbaix, Alexandre;
Collard, François;
Veiga-da-Cunha, Maria;
Linster, Carole

Publication type:

Article

Cyclodextrin alleviates neuronal storage of cholesterol in Niemann-Pick C disease without evidence of detectable blood-brain barrier permeability.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 3, p. 491, doi. 10.1007/s10545-012-9583-x

By:

Pontikis, Charles;
Davidson, Cristin;
Walkley, Steven;
Platt, Frances;
Begley, David

Publication type:

Article

An innovative approach to the treatment of Gaucher disease and possibly other metabolic disorders of the brain.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 3, p. 451, doi. 10.1007/s10545-012-9515-9

By:

Brady, Roscoe;
Yang, Chunzhang;
Zhuang, Zhengping

Publication type:

Article

Disorders of phospholipids, sphingolipids and fatty acids biosynthesis: toward a new category of inherited metabolic diseases.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 3, p. 411, doi. 10.1007/s10545-012-9509-7

By:

Lamari, F.;
Mochel, F.;
Sedel, F.;
Saudubray, J.

Publication type:

Article

Greater risk of parkinsonism associated with non-N370S GBA1 mutations.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 3, p. 575, doi. 10.1007/s10545-012-9527-5

By:

Barrett, M.;
Giraldo, P.;
Capablo, J.;
Alfonso, P.;
Irun, P.;
Garcia-Rodriguez, B.;
Pocovi, M.;
Pastores, G.

Publication type:

Article

Two neonatal cholestasis patients with mutations in the SRD5B1 ( AKR1D1) gene: diagnosis and bile acid profiles during chenodeoxycholic acid treatment.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 3, p. 565, doi. 10.1007/s10545-012-9526-6

By:

Seki, Yoshitaka;
Mizuochi, Tatsuki;
Kimura, Akihiko;
Takahashi, Tomoyuki;
Ohtake, Akira;
Hayashi, Shin-Ichi;
Morimura, Toshiya;
Ohno, Yasuharu;
Hoshina, Takayuki;
Ihara, Kenji;
Takei, Hajime;
Nittono, Hiroshi;
Kurosawa, Takao;
Homma, Keiko;
Hasegawa, Tomonobu;
Matsuishi, Toyojiro

Publication type:

Article

Expression of the Nrf2-system at the blood-CSF barrier is modulated by neonatal inflammation and hypoxia-ischemia.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 3, p. 479, doi. 10.1007/s10545-012-9551-5

By:

D'Angelo, Barbara;
Ek, C.;
Sandberg, Mats;
Mallard, Carina

Publication type:

Article

The CXCL12/CXCR4/CXCR7 ligand-receptor system regulates neuro-glio-vascular interactions and vessel growth during human brain development.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 3, p. 455, doi. 10.1007/s10545-012-9574-y

By:

Virgintino, Daniela;
Errede, Mariella;
Rizzi, Marco;
Girolamo, Francesco;
Strippoli, Maurizio;
Wälchli, Thomas;
Robertson, David;
Frei, Karl;
Roncali, Luisa

Publication type:

Article

Dynamic changes of lipid profile in Romanian patients with Gaucher disease type 1 under enzyme replacement therapy: a prospective study.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 3, p. 555, doi. 10.1007/s10545-012-9529-3

By:

Zimmermann, Anca;
Grigorescu-Sido, Paula;
Rossmann, Heidi;
Lackner, Karl;
Drugan, Cristina;
Khzouz, Camelia;
Bucerzan, Simona;
Naşcu, Ioana;
Zimmermann, Tim;
Leucuţa, Daniel;
Weber, Matthias

Publication type:

Article

Blood-brain barrier structure and function and the challenges for CNS drug delivery.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 3, p. 437, doi. 10.1007/s10545-013-9608-0

By:

Abbott, N.

Publication type:

Article

The blood-brain barrier friend or foe?

Published in:

2013

By:

Scarpa, Maurizio;
Begley, David

Publication type:

Editorial

Low lysine diet in glutaric aciduria type I - effect on anthropometric and biochemical follow-up parameters.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 3, p. 525, doi. 10.1007/s10545-012-9517-7

By:

Boy, Nikolas;
Haege, Gisela;
Heringer, Jana;
Assmann, Birgit;
Mühlhausen, Chris;
Ensenauer, Regina;
Maier, Esther;
Lücke, Thomas;
Hoffmann, Georg;
Müller, Edith;
Burgard, Peter;
Kölker, Stefan

Publication type:

Article

Retroviral-vector-mediated gene therapy to mucopolysaccharidosis I mice improves sensorimotor impairments and other behavioral deficits.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 3, p. 499, doi. 10.1007/s10545-012-9530-x

By:

Baldo, Guilherme;
Wozniak, David;
Ohlemiller, Kevin;
Zhang, Yanming;
Giugliani, Roberto;
Ponder, Katherine

Publication type:

Article

Long-term clinical outcomes in type 1 Gaucher disease following 10 years of imiglucerase treatment.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 3, p. 543, doi. 10.1007/s10545-012-9528-4

By:

Weinreb, Neal;
Goldblatt, Jack;
Villalobos, Jacobo;
Charrow, Joel;
Cole, J.;
Kerstenetzky, Marcelo;
Dahl, Stephan;
Hollak, Carla

Publication type:

Article

Thirty years beyond discovery-Clinical trials in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 3, p. 401, doi. 10.1007/s10545-012-9499-5

By:

Vogel, Kara;
Pearl, Phillip;
Theodore, William;
McCarter, Robert;
Jakobs, Cornelis;
Gibson, K.

Publication type:

Article

Non-physiological amino acid (NPAA) therapy targeting brain phenylalanine reduction: pilot studies in PAH mice.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 3, p. 513, doi. 10.1007/s10545-012-9524-8

By:

Vogel, Kara;
Arning, Erland;
Wasek, Brandi;
Bottiglieri, Teodoro;
Gibson, K.

Publication type:

Article

A novel congenital disorder of glycosylation type without central nervous system involvement caused by mutations in the phosphoglucomutase 1 gene.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 3, p. 535, doi. 10.1007/s10545-012-9525-7

By:

Pérez, Belén;
Medrano, Celia;
Ecay, Maria;
Ruiz-Sala, Pedro;
Martínez-Pardo, Mercedes;
Ugarte, Magdalena;
Pérez-Cerdá, Celia

Publication type:

Article