Works matching IS 01418955 AND DT 2010 AND VI 33
1
- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 507, doi. 10.1007/s10545-012-9569-8
- Garcia Segarra, N.;
- Roche, S.;
- Imbard, A.;
- Benoist, J. F.;
- Grenèche, M. O.;
- Davit‐Spraul, A.;
- Ogier de Baulny, H.
- Article
2
- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 503, doi. 10.1007/s10545-010-9263-7
- Gomes Martins, Esmeralda;
- Santos Silva, Ermelinda;
- Vilarinho, Silvia;
- Saudubray, Jean Marie;
- Vilarinho, Laura
- Article
3
- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 497, doi. 10.1007/s10545-010-9252-x
- Schroeder, A. Sebastian;
- Kappler, Matthias;
- Bonfert, Michaela;
- Borggraefe, Ingo;
- Schoen, Carola;
- Reiter, Karl
- Article
4
- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 489, doi. 10.1007/s10545-010-9248-6
- Chew, Hui Bein;
- Ngu, Lock Hock;
- Zabedah, Md Yunus;
- Keng, Wee Teik;
- Balasubramaniam, Shanti;
- Hanifah, Mohd Jamil M.;
- Kobayashi, Keiko
- Article
5
- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 481, doi. 10.1007/s10545-010-9246-8
- Wolfe, Lynne A.;
- He, Miao;
- Vockley, Jerry;
- Payne, Nicole;
- Rhead, William;
- Hoppel, Charles;
- Spector, Elaine;
- Gernert, Kim;
- Gibson, K. Michael
- Article
6
- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 477, doi. 10.1007/s10545-010-9243-y
- Boudjemline, Alix Mollet;
- Isapof, Arnaud;
- Witas, Jean‐Bernard;
- Petit, François M.;
- Gajdos, Vincent;
- Labrune, Philippe
- Article
7
- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 471, doi. 10.1007/s10545-010-9240-1
- Smith, Nicholas J.;
- Marcus, Robert E.;
- Sahakian, Barbara J.;
- Kapur, Narinder;
- Cox, Timothy M.
- Article
8
- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 465, doi. 10.1007/s10545-010-9234-z
- Minder, Elisabeth I.;
- Haldemann, Andreas R.;
- Schneider‐Yin, Xiaoye
- Article
9
- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 455, doi. 10.1007/s10545-010-9228-x
- Paradisi, Irene;
- Arias, Sergio
- Article
10
- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 443, doi. 10.1007/s10545-010-9227-y
- Barth, Magalie;
- Ottolenghi, Chris;
- Hubert, Laurence;
- Chrétien, Dominique;
- Serre, Valérie;
- Gobin, Stéphanie;
- Romano, Stéphane;
- Vassault, Anne;
- Sefiani, Aziz;
- Ricquier, Daniel;
- Boddaert, Nathalie;
- Brivet, Michèle;
- de Keyzer, Yves;
- Munnich, Arnold;
- Duran, Marinus;
- Rabier, Daniel;
- Valayannopoulos, Vassili;
- de Lonlay, Pascale
- Article
11
- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 401, doi. 10.1007/s10545-010-9198-z
- Sie, Sintha D.;
- de Jonge, Rogier C. J.;
- Blom, Henk J.;
- Mulder, Margot F.;
- Reiss, Jochen;
- Vermeulen, R. J.;
- Peeters‐Scholte, Cacha M. P. C. D.
- Article
12
- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 355, doi. 10.1007/s10545-010-9186-3
- Masciullo, Marcella;
- Santoro, Massimo;
- Modoni, Anna;
- Ricci, Enzo;
- Guitton, Jerome;
- Tonali, Pietro;
- Silvestri, Gabriella
- Article
13
- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 435, doi. 10.1007/s10545-010-9217-0
- Wang, Fei;
- Han, Lianshu;
- Yang, Yanling;
- Gu, Xuefan;
- Ye, Jun;
- Qiu, Wenjuan;
- Zhang, Huiwen;
- Zhang, Yafen;
- Gao, XiaoLan;
- Wang, Yu
- Article
14
- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 417, doi. 10.1007/s10545-010-9211-6
- Sharman, Rachael;
- Sullivan, Karen A.;
- Young, Ross McD.;
- McGill, James J.
- Article
15
- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 413, doi. 10.1007/s10545-010-9207-2
- de Groot, Martijn J.;
- Cuppen, Marcel;
- Eling, Marc;
- Verheijen, Frans W.;
- Rings, Edmond H. H. M.;
- Reijngoud, Dirk‐Jan;
- de Vries, Maaike M. C.;
- van Spronsen, Francjan J.
- Article
16
- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 409, doi. 10.1007/s10545-010-9202-7
- Brunel‐Guitton, Catherine;
- Costa, Teresa;
- Mitchell, Grant A.;
- Lambert, Marie
- Article
17
- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 429, doi. 10.1007/s10545-010-9214-3
- Lo, Sarah M.;
- McNamara, Joseph;
- Seashore, Margherita R.;
- Mistry, Pramod K.
- Article
18
- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 421, doi. 10.1007/s10545-010-9212-5
- Lin, Hsiang‐Yu;
- Chen, Ming‐Ren;
- Chuang, Chih‐Kuang;
- Chen, Chih‐Ping;
- Lin, Dar‐Shong;
- Chien, Yin‐Hsiu;
- Ke, Yu‐Yuan;
- Tsai, Fuu‐Jen;
- Pan, Hui‐Ping;
- Lin, Shio‐Jean;
- Hwu, Wuh‐Liang;
- Niu, Dau‐Ming;
- Lee, Ni‐Chung;
- Lin, Shuan‐Pei
- Article
19
- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 395, doi. 10.1007/s10545-010-9197-0
- Davison, James E.;
- Hendriksz, Christian J.;
- Sun, Yu;
- Davies, Nigel P.;
- Gissen, Paul;
- Peet, Andrew C.
- Article
20
- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 385, doi. 10.1007/s10545-010-9194-3
- Verocai, Flavia;
- Clarke, Joe Thomas;
- Iwanochko, Robert M.
- Article
21
- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 379, doi. 10.1007/s10545-010-9193-4
- Champion, H.;
- Ramaswami, U.;
- Imrie, J.;
- Lachmann, R. H.;
- Gallagher, J.;
- Cox, T. M.;
- Wraith, J. E.
- Article
22
- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 373, doi. 10.1007/s10545-010-9190-7
- Piekutowska‐Abramczuk, Dorota;
- Olsen, Rikke K. J.;
- Wierzba, Jolanta;
- Popowska, Ewa;
- Jurkiewicz, Dorota;
- Ciara, Elżbieta;
- Ołtarzewski, Mariusz;
- Gradowska, Wanda;
- Sykut‐Cegielska, Jolanta;
- Krajewska‐Walasek, Małgorzata;
- Andresen, Brage S.;
- Gregersen, Niels;
- Pronicka, Ewa
- Article
23
- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 363, doi. 10.1007/s10545-010-9189-0
- Lage, Sergio;
- Bueno, María;
- Andrade, Fernando;
- Prieto, José Ángel;
- Delgado, Carmen;
- Legarda, María;
- Sanjurjo, Pablo;
- Aldámiz‐Echevarría, Luis Jose
- Article
24
- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 389, doi. 10.1007/s10545-010-9195-2
- Del Rizzo, Monica;
- Fanin, Marina;
- Cerutti, Alessia;
- Cazzorla, Chiara;
- Milanesi, Ornella;
- Nascimbeni, Anna Chiara;
- Angelini, Corrado;
- Giordano, Laura;
- Bordugo, Andrea;
- Burlina, Alberto B.
- Article
25
- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 349, doi. 10.1007/s10545-010-9183-6
- Smith, Emily Helen;
- Gavrilov, Dimitar K.;
- Oglesbee, Devin;
- Freeman, William D.;
- Vavra, Michael W.;
- Matern, Dietrich;
- Tortorelli, Silvia
- Article
26
- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 307, doi. 10.1007/s10545-010-9168-5
- Fukao, Toshiyuki;
- Ishii, Tomohiro;
- Amano, Naoko;
- Kursula, Petri;
- Takayanagi, Masaki;
- Murase, Keiko;
- Sakaguchi, Naomi;
- Kondo, Naomi;
- Hasegawa, Tomonobu
- Article
27
- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 301, doi. 10.1007/s10545-010-9165-8
- Cornejo, V.;
- Raimann, E.;
- Cabello, J. F.;
- Valiente, A.;
- Becerra, C.;
- Opazo, M.;
- Colombo, M.
- Article
28
- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 329, doi. 10.1007/s10545-010-9176-5
- Vellodi, Ashok;
- Ashworth, Michael;
- Finnegan, Niamh;
- Wallis, Colin
- Article
29
- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 321, doi. 10.1007/s10545-010-9172-9
- Laryea, Maurice D.;
- Herebian, Diran;
- Meissner, Thomas;
- Mayatepek, Ertan
- Article
30
- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 315, doi. 10.1007/s10545-010-9169-4
- Quintana, Ester;
- Pineda, Mercé;
- Font, Aida;
- Vilaseca, Maria Antonia;
- Tort, Frederic;
- Ribes, Antonia;
- Briones, Paz
- Article
31
- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 341, doi. 10.1007/s10545-010-9181-8
- Loukas, Yannis L.;
- Soumelas, Georgios‐Stefanos;
- Dotsikas, Yannis;
- Georgiou, Vassiliki;
- Molou, Elina;
- Thodi, Georgia;
- Boutsini, Maria;
- Biti, Sofia;
- Papadopoulos, Konstantinos
- Article
32
- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 333, doi. 10.1007/s10545-010-9179-2
- Hamdan, Mohamed A.;
- El‐Zoabi, Bushra A.;
- Begam, Muzibunnisa A.;
- Mirghani, Hisham M.;
- Almalik, Mohamed H.
- Article
33
- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 297, doi. 10.1007/s10545-010-9160-0
- Hůlková, Helena;
- Elleder, Milan
- Article
34
- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 293, doi. 10.1007/s10545-010-9155-x
- Navarro‐Sastre, Aleix;
- García‐Silva, Maria Teresa;
- Martín‐Hernández, Elena;
- Lluch, Montserrat;
- Briones, Paz;
- Ribes, Antonia
- Article
35
- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 289, doi. 10.1007/s10545-010-9152-0
- Milánkovics, Ilona;
- Németh, Krisztina;
- Somogyi, Csilla;
- Schuler, Ágnes;
- Fekete, György
- Article
36
- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 283, doi. 10.1007/s10545-010-9149-8
- Albersen, Monique;
- Bonthuis, Marjolein;
- de Roos, Nicole M.;
- den van Hurk, Dorine A. M.;
- Carbasius Weber, Ems;
- Hendriks, Margriet M. W. B.;
- de Sain‐van der Velden, Monique G. M.;
- de Koning, Tom J.;
- Visser, Gepke
- Article
37
- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 275, doi. 10.1007/s10545-010-9148-9
- Sokoro, AbdulRazaq A. H.;
- Lepage, Joyce;
- Antonishyn, Nick;
- McDonald, Ryan;
- Rockman‐Greenberg, Cheryl;
- Irvine, James;
- Lehotay, Denis C.
- Article
38
- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 269, doi. 10.1007/s10545-010-9145-z
- Nissen, Peter H.;
- Nordwall, Maria;
- Hoffmann‐Lücke, Elke;
- Sorensen, Boe S.;
- Nexo, Ebba
- Article
39
- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 205, doi. 10.1007/s10545-010-9085-7
- Schreuder, L. T. W.;
- Nijhuis‐van der Sanden, M. W. G.;
- de Hair, A.;
- Peters, G.;
- Wortmann, S.;
- Bok, L. A.;
- Morava, E.
- Article
40
- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 257, doi. 10.1007/s10545-010-9140-4
- Artigalás, Osvaldo;
- Lagranha, Valeska Lizzi;
- Saraiva‐Pereira, Maria Luiza;
- Burin, Maira Graeff;
- Lourenço, Charles Marques;
- van der Linden, Jr, Hélio;
- Santos, Mara Lúcia Ferreira;
- Rosemberg, Sergio;
- Steiner, Carlos Eduardo;
- Kok, Fernando;
- de Souza, Carolina F. Moura;
- Jardim, Laura B.;
- Giugliani, Roberto;
- Schwartz, Ida Vanessa
- Article
41
- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 253, doi. 10.1007/s10545-010-9137-z
- Footitt, E. J.;
- Stafford, J.;
- Dixon, M.;
- Burch, M.;
- Jakobs, C.;
- Salomons, G. S.;
- Cleary, M. A.
- Article
42
- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 249, doi. 10.1007/s10545-010-9136-0
- Tanaka, Akemi;
- Takeda, Taisuke;
- Hoshina, Takao;
- Fukai, Kazuyoshi;
- Yamano, Tsunekazu
- Article
43
- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 241, doi. 10.1007/s10545-010-9132-4
- Jezela‐Stanek, Aleksandra;
- Ciara, Elżbieta;
- Małunowicz, Ewa;
- Chrzanowska, Krystyna;
- Latos‐Bieleńska, Anna;
- Krajewska‐Walasek, Małgorzata;
- The Smith‐Lemli‐Opitz syndrome (SLOS) Collaborative Group
- Article
44
- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 263, doi. 10.1007/s10545-010-9143-1
- Al‐Hassnan, Zuhair N.;
- Imtiaz, Faiqa;
- Al‐Amoudi, Mohamed;
- Rahbeeni, Zuhair;
- Al‐Sayed, Moeen;
- Al‐Owain, Mohammed;
- Al‐Zaidan, Hamad;
- Al‐Odaib, Ali;
- Rashed, Mohamed S.
- Article
45
- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 227, doi. 10.1007/s10545-010-9107-5
- Kirk, J.;
- Porter, K. M.;
- Parker, V.;
- Barroso, I.;
- O'Rahilly, S.;
- Hendriksz, C.;
- Semple, R. K.
- Article
46
- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 219, doi. 10.1007/s10545-010-9098-2
- Ballhausen, Diana;
- Guerry, Frédéric;
- Hahn, Dagmar;
- Schaller, André;
- Nuoffer, Jean‐Marc;
- Bonafé, Luisa;
- Jeannet, Pierre‐Yves;
- Jacquemont, Sebastien
- Article
47
- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 215, doi. 10.1007/s10545-010-9096-4
- Crushell, Ellen;
- Treacy, Eileen P.;
- Dawe, J.;
- Durkie, M.;
- Beauchamp, Nicholas J.
- Article
48
- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 211, doi. 10.1007/s10545-010-9089-3
- Tylki‐Szymanska, Anna;
- Gradowska, Wanda;
- Sommer, Anke;
- Heer, Angelina;
- Walter, Melanie;
- Reinhard, Christina;
- Omran, Heymut;
- Sass, Jörn Oliver;
- Jurecka, Agnieszka
- Article
49
- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 233, doi. 10.1007/s10545-010-9123-5
- Weiss, Karl Heinz;
- Runz, Heiko;
- Noe, Barbara;
- Gotthardt, Daniel Nils;
- Merle, Uta;
- Ferenci, Peter;
- Stremmel, Wolfgang;
- Füllekrug, Joachim
- Article
50
- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 199, doi. 10.1007/s10545-010-9084-8
- Pinar‐Sueiro, Sergio;
- Martínez‐Fernández, Ricardo;
- Lage‐Medina, Sergio;
- Aldamiz‐Echevarria, Luis;
- Vecino, Elena
- Article