Works matching IS 01418955 AND DT 2011 AND VI 34 AND IP 3

Results: 33

Complex III staining in blue native polyacrylamide gels.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 3, p. 741, doi. 10.1007/s10545-011-9315-7

By:

Smet, Joél;
Paepe, Boel;
Seneca, Sara;
Lissens, Willy;
Kotarsky, Heike;
Meirleir, Linda;
Fellman, Vineta;
Coster, Rudy

Publication type:

Article

Disorders of bile acid synthesis.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 3, p. 593, doi. 10.1007/s10545-010-9259-3

By:

Clayton, Peter

Publication type:

Article

Non-invasive measurements of atherosclerosis in adult cystinosis patients.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 3, p. 811, doi. 10.1007/s10545-011-9281-0

By:

Besouw, Martine;
Holewijn, Suzanne;
Levtchenko, Elena;
Janssen, Mirian

Publication type:

Article

High-throughput structural biology of metabolic enzymes and its impact on human diseases.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 3, p. 575, doi. 10.1007/s10545-011-9296-6

By:

Yue, Wyatt;
Oppermann, Udo

Publication type:

Article

Identification of alkaptonuria in the general population: a United Kingdom experience describing the challenges, possible solutions and persistent barriers.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 3, p. 723, doi. 10.1007/s10545-011-9282-z

By:

Ranganath, L.;
Taylor, A.;
Shenkin, A.;
Fraser, W.;
Jarvis, J.;
Gallagher, J.;
Sireau, N.

Publication type:

Article

On the future of 'omics': lipidomics.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 3, p. 583, doi. 10.1007/s10545-010-9274-4

By:

Griffiths, William;
Ogundare, Michael;
Williams, Christopher;
Wang, Yuqin

Publication type:

Article

Treatment of mucopolysaccharidosis type II (Hunter syndrome) with idursulfase: the relevance of clinical trial end points.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 3, p. 749, doi. 10.1007/s10545-011-9280-1

By:

Glamuzina, Emma;
Fettes, Emma;
Bainbridge, Katie;
Crook, Victoria;
Finnegan, Niamh;
Abulhoul, Lara;
Vellodi, Ashok

Publication type:

Article

Newborn screening for congenital hypothyroidism in very-low-birth-weight babies: the need for a second test.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 3, p. 827, doi. 10.1007/s10545-011-9286-8

By:

Bijarnia, Sunita;
Wilcken, Bridget;
Wiley, Veronica

Publication type:

Article

Transition of young adults with phenylketonuria from pediatric to adult care.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 3, p. 701, doi. 10.1007/s10545-011-9284-x

By:

Mütze, Ulrike;
Roth, Annika;
Weigel, Johannes;
Beblo, Skadi;
Baerwald, Christoph;
Bührdel, Peter;
Kiess, Wieland

Publication type:

Article

Mild hyperphenylalaninemia: to treat or not to treat.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 3, p. 651, doi. 10.1007/s10545-011-9283-y

By:

Spronsen, Francjan

Publication type:

Article

Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: the clinical relevance of an early diagnosis and report of four new cases.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 3, p. 835, doi. 10.1007/s10545-011-9287-7

By:

Martins, Esmeralda;
Cardoso, M.;
Rodrigues, Esmeralda;
Barbot, Clara;
Ramos, Altina;
Bennett, Michael;
Teles, Elisa;
Vilarinho, Laura

Publication type:

Article

Protein structure reports in JIMD - an important enhancement of journal scope.

Published in:

2011

By:

Rupp, Bernhard

Publication type:

Editorial

Neurological manifestations in patients with Gaucher disease and their relatives, it is just a coincidence?

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 3, p. 781, doi. 10.1007/s10545-011-9298-4

By:

Giraldo, Pilar;
Capablo, Jose;
Alfonso, Pilar;
Garcia-Rodriguez, Beatriz;
Latre, Paz;
Irun, Pilar;
Cabezon, Alicia;
Pocovi, Miguel

Publication type:

Article

Orthopaedic management of Hurler's disease after hematopoietic stem cell transplantation: a systematic review.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 3, p. 657, doi. 10.1007/s10545-011-9304-x

By:

Linden, Marleen;
Kruyt, Moyo;
Sakkers, Ralph;
Koning, Tom;
Öner, F.;
Castelein, René

Publication type:

Article

Diagnosis of tetrahydrobiopterin deficiency using filter paper blood spots: further development of the method and 5 years experience.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 3, p. 819, doi. 10.1007/s10545-011-9300-1

By:

Opladen, Thomas;
Abu Seda, Bettina;
Rassi, Anahita;
Thöny, Beat;
Hoffmann, Georg;
Blau, Nenad

Publication type:

Article

The craniocervical junction following successful haematopoietic stem cell transplantation for mucopolysaccharidosis type I H (Hurler syndrome).

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 3, p. 755, doi. 10.1007/s10545-011-9309-5

By:

Miebach, Elke;
Church, Heather;
Cooper, Alan;
Mercer, Jean;
Tylee, Karen;
Wynn, Robert;
Wraith, J.

Publication type:

Article

Renal transplantation in a boy with methylmalonic acidaemia.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 3, p. 695, doi. 10.1007/s10545-011-9303-y

By:

Clothier, Joanna;
Chakrapani, Anupam;
Preece, Mary-Anne;
McKiernan, Patrick;
Gupta, Rajat;
Macdonald, Anita;
Hulton, Sally-Anne

Publication type:

Article

Biotherapeutic target or sink: analysis of the macrophage mannose receptor tissue distribution in murine models of lysosomal storage diseases.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 3, p. 795, doi. 10.1007/s10545-011-9285-9

By:

Zhang, Xin;
Brondyk, William;
Lydon, John;
Thurberg, Beth;
Piepenhagen, Peter

Publication type:

Article

Diagnosis and management of glutaric aciduria type I - revised recommendations.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 3, p. 677, doi. 10.1007/s10545-011-9289-5

By:

Kölker, Stefan;
Christensen, Ernst;
Leonard, James;
Greenberg, Cheryl;
Boneh, Avihu;
Burlina, Alberto;
Burlina, Alessandro;
Dixon, Marjorie;
Duran, Marinus;
García Cazorla, Angels;
Goodman, Stephen;
Koeller, David;
Kyllerman, Mårten;
Mühlhausen, Chris;
Müller, Edith;
Okun, Jürgen;
Wilcken, Bridget;
Hoffmann, Georg;
Burgard, Peter

Publication type:

Article

Gaucher disease: when molecular testing and clinical presentation disagree -the novel c.1226A>G(p.N370S)--RecNcil allele.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 3, p. 789, doi. 10.1007/s10545-011-9307-7

By:

Balwani, Manisha;
Grace, Marie;
Desnick, Robert

Publication type:

Article

Structural basis of fumarate hydratase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 3, p. 671, doi. 10.1007/s10545-011-9294-8

By:

Picaud, Sarah;
Kavanagh, Kathryn;
Yue, Wyatt;
Lee, Wen;
Muller-Knapp, Susanne;
Gileadi, Opher;
Sacchettini, James;
Oppermann, Udo

Publication type:

Article

Biomarkers in the diagnosis of lysosomal storage disorders: proteins, lipids, and inhibodies.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 3, p. 605, doi. 10.1007/s10545-011-9308-6

By:

Aerts, Johannes;
Kallemeijn, Wouter;
Wegdam, Wouter;
Joao Ferraz, Maria;
Breemen, Marielle;
Dekker, Nick;
Kramer, Gertjan;
Poorthuis, Ben;
Groener, Johanna;
Cox-Brinkman, Josanne;
Rombach, Saskia;
Hollak, Carla;
Linthorst, Gabor;
Witte, Martin;
Gold, Henrik;
Marel, Gijs;
Overkleeft, Herman;
Boot, Rolf

Publication type:

Article

Newborn screening: how are we travelling, and where should we be going?

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 3, p. 569, doi. 10.1007/s10545-011-9326-4

By:

Wilcken, Bridget

Publication type:

Article

Brain and spine MRI features of Hunter disease: frequency, natural evolution and response to therapy.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 3, p. 763, doi. 10.1007/s10545-011-9317-5

By:

Manara, Renzo;
Priante, Elena;
Grimaldi, Marco;
Santoro, Lucia;
Astarita, Luca;
Barone, Rita;
Concolino, Daniela;
Rocco, Maja;
Donati, Maria;
Fecarotta, Simona;
Ficcadenti, Anna;
Fiumara, Agata;
Furlan, Francesca;
Giovannini, Irene;
Lilliu, Franco;
Mardari, Rodica;
Polonara, Gabriele;
Procopio, Elena;
Rampazzo, Angelica;
Rossi, Andrea

Publication type:

Article

Defect in proline synthesis: pyrroline-5-carboxylate reductase 1 deficiency leads to a complex clinical phenotype with collagen and elastin abnormalities.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 3, p. 731, doi. 10.1007/s10545-011-9319-3

By:

Kretz, Rita;
Bozorgmehr, Bita;
Kariminejad, Mohamad;
Rohrbach, Marianne;
Hausser, Ingrid;
Baumer, Alessandra;
Baumgartner, Matthias;
Giunta, Cecilia;
Kariminejad, Ariana;
Häberle, Johannes

Publication type:

Article

Dietary dilemmas in the management of glycogen storage disease type I.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 3, p. 621, doi. 10.1007/s10545-011-9322-8

By:

Bhattacharya, Kaustuv

Publication type:

Article

Annual symposium of the SSIEM 2010.

Published in:

2011

By:

Coşkun, Turgay

Publication type:

Editorial

Pulmonary vascular disease in Gaucher disease: clinical spectrum, determinants of phenotype and long-term outcomes of therapy.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 3, p. 643, doi. 10.1007/s10545-011-9313-9

By:

Lo, Sarah;
Liu, Jun;
Chen, F.;
Pastores, G.;
Knowles, J.;
Boxer, M.;
Aleck, Kirk;
Mistry, Pramod

Publication type:

Article

Introduction to the Komrower Memorial Lecture 2010.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 3, p. 559, doi. 10.1007/s10545-011-9327-3

By:

Jakobs, Cornelis

Publication type:

Article

Interactive JIMD articles using the iSee concept: turning a new page on structural biology data.

Published in:

2011

By:

Lee, Wen;
Yue, Wyatt;
Raush, Eugene;
Totrov, Maxim;
Abagyan, Ruben;
Oppermann, Udo;
Marsden, Brian

Publication type:

Editorial

The use of continuous glucose monitoring in the practical management of glycogen storage disorders.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 3, p. 631, doi. 10.1007/s10545-011-9335-3

By:

White, Fiona;
Jones, Simon

Publication type:

Article

Tackling frontal lobe-related functions in PKU through functional brain imaging: a Stroop task in adult patients.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 3, p. 711, doi. 10.1007/s10545-011-9318-4

By:

Sundermann, Benedikt;
Pfleiderer, Bettina;
Möller, Harald;
Schwindt, Wolfram;
Weglage, Josef;
Lepsien, Jöran;
Feldmann, Reinhold

Publication type:

Article

Erratum to: Diagnosis of tetrahydrobiopterin deficiency using filter paper blood spots: further development of the method and 5 years experience.

Published in:

2011

By:

Opladen, Thomas;
Abu Seda, Bettina;
Rassi, Anahita;
Thöny, Beat;
Hoffmann, Georg;
Blau, Nenad

Publication type:

Correction Notice