Works matching IS 01418955 AND DT 2012 AND VI 35

Results: 127

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

Annual Symposium of the Society for the Study of Inborn Errors of Metabolism.

Published in:: Journal of Inherited Metabolic Disease, 2012, v. 35, p. 1, doi. 10.1007/s10545-012-9512-z
Publication type:: Article

Heterozygosity for an in-frame deletion causes glutaryl-CoA dehydrogenase deficiency in a patient detected by newborn screening: investigation of the effect of the mutant allele.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 5, p. 787, doi. 10.1007/s10545-011-9437-y

By:

Bross, Peter;
Frederiksen, Jane;
Bie, Anne;
Hansen, Jakob;
Palmfeldt, Johan;
Nielsen, Marit;
Duno, Morten;
Lund, Allan;
Christensen, Ernst

Publication type:

Article

Long-term outcome and intervention of urea cycle disorders in Japan.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 5, p. 777, doi. 10.1007/s10545-011-9427-0

By:

Kido, Jun;
Nakamura, Kimitoshi;
Mitsubuchi, Hiroshi;
Ohura, Toshihiro;
Takayanagi, Masaki;
Matsuo, Masafumi;
Yoshino, Makoto;
Shigematsu, Yosuke;
Yorifuji, Tohru;
Kasahara, Mureo;
Horikawa, Reiko;
Endo, Fumio

Publication type:

Article

Increased arterial stiffness is associated with high cardiovascular mortality in male Fabry patients.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 5, p. 885, doi. 10.1007/s10545-011-9428-z

By:

Nicholls, Kathleen

Publication type:

Article

Heterogeneity of follow-up procedures in French and Belgian patients with treated hereditary tyrosinemia type 1: results of a questionnaire and proposed guidelines.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 5, p. 823, doi. 10.1007/s10545-011-9429-y

By:

Schiff, Manuel;
Broue, Pierre;
Chabrol, Brigitte;
Laet, Corinne;
Habes, Dalila;
Mention, Karine;
Sarles, Jacques;
Spraul, Anne;
Valayannopoulos, Vassili;
Ogier de Baulny, Hélène

Publication type:

Article

Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 5, p. 761, doi. 10.1007/s10545-011-9411-8

By:

Martinelli, Diego;
Häberle, Johannes;
Rubio, Vicente;
Giunta, Cecilia;
Hausser, Ingrid;
Carrozzo, Rosalba;
Gougeard, Nadine;
Marco-Marín, Clara;
Goffredo, Bianca;
Meschini, Maria;
Bevivino, Elsa;
Boenzi, Sara;
Colafati, Giovanna;
Brancati, Francesco;
Baumgartner, Matthias;
Dionisi-Vici, Carlo

Publication type:

Article

A mixture of oleic, erucic and conjugated linoleic acids modulates cerebrospinal fluid inflammatory markers and improve somatosensorial evoked potential in X-linked adrenoleukodystrophy female carriers.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 5, p. 899, doi. 10.1007/s10545-011-9432-3

By:

Cappa, Marco;
Bizzarri, Carla;
Petroni, Anna;
Carta, Gianfranca;
Cordeddu, Lina;
Valeriani, Massimiliano;
Vollono, Catello;
Pasquale, Loredana;
Blasevich, Milena;
Banni, Sebastiano

Publication type:

Article

Newborn screening for lysosomal diseases: current status and potential interface with population medical genetics in Latin America.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 5, p. 871, doi. 10.1007/s10545-011-9436-z

By:

Giugliani, Roberto

Publication type:

Article

Decreased functional brain connectivity in individuals with early-treated phenylketonuria: evidence from resting state fMRI.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 5, p. 807, doi. 10.1007/s10545-011-9439-9

By:

Christ, Shawn;
Moffitt, Amanda;
Peck, Dawn;
White, Desirée;
Hilgard, Joseph

Publication type:

Article

Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 5, p. 749, doi. 10.1007/s10545-011-9440-3

By:

Honzik, Tomas;
Tesarova, Marketa;
Magner, Martin;
Mayr, Johannes;
Jesina, Pavel;
Vesela, Katerina;
Wenchich, Laszlo;
Szentivanyi, Karol;
Hansikova, Hana;
Sperl, Wolfgang;
Zeman, Jiri

Publication type:

Article

The measurement of urinary Δ-piperideine-6-carboxylate, the alter ego of α-aminoadipic semialdehyde, in Antiquitin deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 5, p. 909, doi. 10.1007/s10545-011-9443-0

By:

Struys, Eduard;
Bok, Levinus;
Emal, Dina;
Houterman, Saskia;
Willemsen, Michel;
Jakobs, Cornelis

Publication type:

Article

Metabolic decompensation in methylmalonic aciduria: which biochemical parameters are discriminative?

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 5, p. 797, doi. 10.1007/s10545-011-9426-1

By:

Zwickler, Tamaris;
Haege, Gisela;
Riderer, Alina;
Hörster, Friederike;
Hoffmann, Georg;
Burgard, Peter;
Kölker, Stefan

Publication type:

Article

36 months observational clinical study of 38 adult Pompe disease patients under alglucosidase alfa enzyme replacement therapy.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 5, p. 837, doi. 10.1007/s10545-012-9451-8

By:

Regnery, Caroline;
Kornblum, Cornelia;
Hanisch, Frank;
Vielhaber, Stefan;
Strigl-Pill, Nicola;
Grunert, Birgit;
Müller-Felber, Wolfgang;
Glocker, Franz;
Spranger, Matthias;
Deschauer, Marcus;
Mengel, Eugen;
Schoser, Benedikt

Publication type:

Article

Free asymmetric dimethylarginine (ADMA) is low in children and adolescents with classical phenylketonuria (PKU).

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 5, p. 817, doi. 10.1007/s10545-011-9448-8

By:

Huemer, M.;
Simma, B.;
Mayr, D.;
Möslinger, D.;
Mühl, A.;
Schmid, I.;
Ulmer, H.;
Bodamer, O.A.

Publication type:

Article

Internet use by parents of infants with positive newborn screens.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 5, p. 879, doi. 10.1007/s10545-011-9449-7

By:

DeLuca, Jane;
Kearney, Margaret;
Norton, Sally;
Arnold, Georgianne

Publication type:

Article

Protein farnesylation and disease.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 5, p. 917, doi. 10.1007/s10545-011-9445-y

By:

Novelli, Giuseppe;
D'Apice, Maria

Publication type:

Article

Single dose NTBC-treatment of hereditary tyrosinemia type I.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 5, p. 831, doi. 10.1007/s10545-012-9450-9

By:

Schlune, A.;
Thimm, E.;
Herebian, D.;
Spiekerkoetter, U.

Publication type:

Article

Combination small molecule PPT1 mimetic and CNS-directed gene therapy as a treatment for infantile neuronal ceroid lipofuscinosis.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 5, p. 847, doi. 10.1007/s10545-011-9446-x

By:

Roberts, Marie;
Macauley, Shannon;
Wong, Andrew;
Yilmas, Denis;
Hohm, Sarah;
Cooper, Jonathan;
Sands, Mark

Publication type:

Article

No evidence for mevalonate shunting in moderately affected children with Smith-Lemli-Opitz syndrome.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 5, p. 859, doi. 10.1007/s10545-012-9453-6

By:

Roullet, Jean-Baptiste;
Merkens, Louise;
Pappu, Anuradha;
Jacobs, Megan;
Winter, Rolf;
Connor, William;
Steiner, Robert

Publication type:

Article

Prevalence of symptoms in female Fabry disease patients: a case-control survey.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 5, p. 891, doi. 10.1007/s10545-011-9447-9

By:

Bouwman, Machtelt;
Rombach, Saskia;
Schenk, Erica;
Sweeb, Annelies;
Wijburg, Frits;
Hollak, Carla;
Linthorst, Gabor

Publication type:

Article

Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 5, p. 737, doi. 10.1007/s10545-012-9492-z

By:

Koene, S.;
Rodenburg, R.;
Knaap, M.;
Willemsen, M.;
Sperl, W.;
Laugel, V.;
Ostergaard, E.;
Tarnopolsky, M.;
Martin, M.;
Nesbitt, V.;
Fletcher, J.;
Edvardson, S.;
Procaccio, V.;
Slama, A.;
Heuvel, L.;
Smeitink, J.

Publication type:

Article

Commentary: What degree of hyperphenylalaninaemia requires treatment?

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 5, p. 927, doi. 10.1007/s10545-012-9505-y

By:

Pollitt, R.

Publication type:

Article

Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 1 - From blood spot to screening result.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 4, p. 603, doi. 10.1007/s10545-012-9483-0

By:

Loeber, J.;
Burgard, Peter;
Cornel, Martina;
Rigter, Tessel;
Weinreich, Stephanie;
Rupp, Kathrin;
Hoffmann, Georg;
Vittozzi, Luciano

Publication type:

Article