Works matching IS 01418955 AND DT 2012 AND VI 35 AND IP 6

Results: 27

Lysosomal delivery of therapeutic enzymes in cell models of Fabry disease.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 6, p. 1107, doi. 10.1007/s10545-012-9472-3

By:

Marchesan, D.;
Cox, T.;
Deegan, P.

Publication type:

Article

Clinical variability of isovaleric acidemia in a genetically homogeneous population.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 6, p. 1021, doi. 10.1007/s10545-012-9457-2

By:

Dercksen, M.;
Duran, M.;
IJlst, L.;
Mienie, L.;
Reinecke, C.;
Ruiter, J.;
Waterham, H.;
Wanders, R.

Publication type:

Article

The cognitive profile of type 1 Gaucher disease patients.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 6, p. 1093, doi. 10.1007/s10545-012-9460-7

By:

Biegstraaten, Marieke;
Wesnes, Keith;
Luzy, Cécile;
Petakov, Milan;
Mrsic, Mirando;
Niederau, Claus;
Giraldo, Pilar;
Hughes, Derralynn;
Mehta, Atul;
Mengel, Karl-Eugen;
Hollak, Carla;
Maródi, László;
Schaik, Ivo

Publication type:

Article

Cultural aspects in the management of inborn errors of metabolism.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 6, p. 1147, doi. 10.1007/s10545-012-9455-4

By:

Stockler, Sylvia;
Moeslinger, Dorothea;
Herle, Marion;
Wimmer, Banu;
Ipsiroglu, Osman

Publication type:

Article

Efficacy and safety of BH4 before the age of 4 years in patients with mild phenylketonuria.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 6, p. 975, doi. 10.1007/s10545-012-9464-3

By:

Leuret, Oriane;
Barth, Magalie;
Kuster, Alice;
Eyer, Didier;
Parscau, Loïc;
Odent, Sylvie;
Gilbert-Dussardier, Brigitte;
Feillet, François;
Labarthe, François

Publication type:

Article

Tetrahydrobiopterin (BH) in PKU: effect on dietary treatment, metabolic control, and quality of life.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 6, p. 983, doi. 10.1007/s10545-012-9458-1

By:

Ziesch, B.;
Weigel, J.;
Thiele, A.;
Mütze, U.;
Rohde, C.;
Ceglarek, U.;
Thiery, J.;
Kiess, W.;
Beblo, S.

Publication type:

Article

Clinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m.3243A > G mutation.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 6, p. 1059, doi. 10.1007/s10545-012-9465-2

By:

Laat, Paul;
Koene, Saskia;
Heuvel, Lambert;
Rodenburg, Richard;
Janssen, Mirian;
Smeitink, Jan

Publication type:

Article

Urinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 6, p. 1031, doi. 10.1007/s10545-012-9466-1

By:

Mills, Philippa;
Footitt, Emma;
Ceyhan, Serkan;
Waters, Paula;
Jakobs, Cornelis;
Clayton, Peter;
Struys, Eduard

Publication type:

Article

Lysine triggers apoptosis through a NADPH oxidase-dependent mechanism in human renal tubular cells.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 6, p. 1011, doi. 10.1007/s10545-012-9468-z

By:

Verzola, Daniela;
Famà, Annamaria;
Villaggio, Barbara;
Rocco, Maia;
Simonato, Alchiede;
D'Amato, Elena;
Gianiorio, Fabio;
Garibotto, Giacomo

Publication type:

Article

Adenosine, dopamine and serotonin receptors imbalance in lymphocytes of Lesch-Nyhan patients.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 6, p. 1129, doi. 10.1007/s10545-012-9470-5

By:

García, Marta;
Puig, Juan;
Torres, Rosa

Publication type:

Article

Clinical characteristics of adults with slowly progressing mucopolysaccharidosis VI: a case series.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 6, p. 1071, doi. 10.1007/s10545-012-9474-1

By:

Thümler, Anke;
Miebach, Elke;
Lampe, Christina;
Pitz, Susanne;
Kamin, Wolfgang;
Kampmann, Christoph;
Link, Bianca;
Mengel, Eugen

Publication type:

Article

Long-term bone mineral density response to enzyme replacement therapy in a retrospective pediatric cohort of Gaucher patients.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 6, p. 1101, doi. 10.1007/s10545-012-9476-z

By:

Ciana, Giovanni;
Deroma, Laura;
Franzil, Anna;
Dardis, Andrea;
Bembi, Bruno

Publication type:

Article

In vivo catecholaminergic metabolism in the medial prefrontal cortex of ENU2 mice: an investigation of the cortical dopamine deficit in phenylketonuria.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 6, p. 1001, doi. 10.1007/s10545-012-9473-2

By:

Pascucci, Tiziana;
Giacovazzo, Giacomo;
Andolina, Diego;
Conversi, David;
Cruciani, Fabio;
Cabib, Simona;
Puglisi-Allegra, Stefano

Publication type:

Article

Bezafibrate lowers very long-chain fatty acids in X-linked adrenoleukodystrophy fibroblasts by inhibiting fatty acid elongation.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 6, p. 1137, doi. 10.1007/s10545-012-9471-4

By:

Engelen, Marc;
Schackmann, Martin;
Ofman, Rob;
Sanders, Robert-Jan;
Dijkstra, Inge;
Houten, Sander;
Fourcade, Stéphane;
Pujol, Aurora;
Poll-The, Bwee;
Wanders, Ronald;
Kemp, Stephan

Publication type:

Article

Living situation, occupation and health-related quality of life in adult patients with classic galactosemia.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 6, p. 1051, doi. 10.1007/s10545-012-9469-y

By:

Hoffmann, Björn;
Dragano, Nico;
Schweitzer-Krantz, Susanne

Publication type:

Article

Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 6, p. 1037, doi. 10.1007/s10545-012-9477-y

By:

Jumbo-Lucioni, Patricia;
Garber, Kathryn;
Kiel, John;
Baric, Ivo;
Berry, Gerard;
Bosch, Annet;
Burlina, Alberto;
Chiesa, Ana;
Pico, Maria;
Estrada, Sylvia;
Henderson, Howard;
Leslie, Nancy;
Longo, Nicola;
Morris, Andrew;
Ramirez-Farias, Carlett;
Scheweitzer-Krantz, Susanne;
Silao, Catherine;
Vela-Amieva, Marcela;
Waisbren, Susan;
Fridovich-Keil, Judith

Publication type:

Article

Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 6, p. 1119, doi. 10.1007/s10545-012-9461-6

By:

Michot, Caroline;
Hubert, Laurence;
Romero, Norma;
Gouda, Amr;
Mamoune, Asmaa;
Mathew, Suja;
Kirk, Edwin;
Viollet, Louis;
Rahman, Shamima;
Bekri, Soumeya;
Peters, Heidi;
McGill, James;
Glamuzina, Emma;
Farrar, Michelle;
Hagen, Maya;
Alexander, Ian;
Kirmse, Brian;
Barth, Magalie;
Laforet, Pascal;
Benlian, Pascale

Publication type:

Article

Cell surface associated glycohydrolases in normal and Gaucher disease fibroblasts.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 6, p. 1081, doi. 10.1007/s10545-012-9478-x

By:

Aureli, Massimo;
Bassi, Rosaria;
Loberto, Nicoletta;
Regis, Stefano;
Prinetti, Alessandro;
Chigorno, Vanna;
Aerts, Johannes;
Boot, Rolf;
Filocamo, Mirella;
Sonnino, Sandro

Publication type:

Article

Maternal phenylketonuria: low phenylalaninemia might increase the risk of intra uterine growth retardation.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 6, p. 993, doi. 10.1007/s10545-012-9491-0

By:

Teissier, Raphaël;
Nowak, Emmanuel;
Assoun, Murielle;
Mention, Karine;
Cano, Aline;
Fouilhoux, Alain;
Feillet, François;
Ogier, Hélène;
Oger, Emmanuel;
Parscau, Loïc

Publication type:

Article

Unexpectedly low asymmetric dimethylarginine (ADMA) and homocysteine levels in patients with phenylketonuria(PKU).

Published in:

2012

By:

Özcan, Ömer;
Ipcioglu, Osman;
Gultepe, Mustafa

Publication type:

Letter

An international survey of patients with tetrahydrobiopterin deficiencies presenting with hyperphenylalaninaemia.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 6, p. 963, doi. 10.1007/s10545-012-9506-x

By:

Opladen, Thomas;
Hoffmann, Georg;
Blau, Nenad

Publication type:

Article

Erratum to: Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes.

Published in:

2012

By:

Jumbo-Lucioni, Patricia;
Garber, Kathryn;
Kiel, John;
Baric, Ivo;
Berry, Gerard;
Bosch, Annet;
Burlina, Alberto;
Chiesa, Ana;
Pico, Maria;
Estrada, Sylvia;
Henderson, Howard;
Leslie, Nancy;
Longo, Nicola;
Morris, Andrew;
Ramirez-Farias, Carlett;
Schweitzer-Krantz, Susanne;
Silao, Catherine;
Vela-Amieva, Marcela;
Waisbren, Susan;
Fridovich-Keil, Judith

Publication type:

Correction Notice

Erratum to: Clinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m.3243A>G mutation.

Published in:

2012

By:

Laat, Paul;
Koene, Saskia;
Heuvel, Lambert;
Rodenburg, Richard;
Janssen, Mirian;
Smeitink, Jan

Publication type:

Correction Notice

Sjögren-Larsson syndrome in clinical practice.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 6, p. 955, doi. 10.1007/s10545-012-9518-6

By:

Fuijkschot, Joris;
Theelen, Thomas;
Seyger, Marieke;
Graaf, Marinette;
Groot, Imelda;
Wevers, Ron;
Wanders, Ronald;
Waterham, Hans;
Willemsen, Michèl

Publication type:

Article

Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 6, p. 943, doi. 10.1007/s10545-012-9513-y

By:

Haack, Tobias;
Makowski, Christine;
Yao, Yoshiaki;
Graf, Elisabeth;
Hempel, Maja;
Wieland, Thomas;
Tauer, Ulrike;
Ahting, Uwe;
Mayr, Johannes;
Freisinger, Peter;
Yoshimatsu, Hiroki;
Inui, Ken;
Strom, Tim;
Meitinger, Thomas;
Yonezawa, Atsushi;
Prokisch, Holger

Publication type:

Article

Brown-Vialetto-Van Laere and Fazio Londe syndromes: defects of riboflavin transport with biochemical similarities to multiple acyl-CoA dehydrogenation defects (MADD).

Published in:

2012

By:

Bennett, Michael

Publication type:

Editorial

Miglustat-induced intestinal carbohydrate malabsorption is due to the inhibition of α-glucosidases, but not β-galactosidases.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 6, p. 949, doi. 10.1007/s10545-012-9523-9

By:

Amiri, Mahdi;
Naim, Hassan

Publication type:

Article