Works matching IS 01418955 AND DT 2013 AND VI 36 AND IP 1

Results: 21

Relationship between enzyme properties and disease progression in Canavan disease.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 1, p. 1, doi. 10.1007/s10545-012-9520-z

By:

Zano, Stephen;
Wijayasinghe, Yasanandana;
Malik, Radhika;
Smith, Joshua;
Viola, Ronald

Publication type:

Article

Primary carnitine deficiency and pivalic acid exposure causing encephalopathy and fatal cardiac events.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 1, p. 35, doi. 10.1007/s10545-012-9488-8

By:

Rasmussen, Jan;
Nielsen, Olav;
Lund, Allan;
Køber, Lars;
Djurhuus, Høgni

Publication type:

Article

New insights into creatine transporter deficiency: the importance of recycling creatine in the brain.

Published in:

2013

By:

Kamp, Jiddeke;
Jakobs, Cornelis;
Gibson, K.;
Salomons, Gajja

Publication type:

Letter

The influence of sex, gestational age, birth weight, blood transfusion, and timing of the heel prick on the pancreatitis-associated protein concentration in newborn screening for cystic fibrosis.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 1, p. 147, doi. 10.1007/s10545-012-9498-6

By:

Vernooij-van Langen, Annette;
Loeber, J.;
Elvers, Bert;
Triepels, Ralf;
Roefs, Jos;
Gille, Johan;
Reijntjens, Sandra;
Dompeling, Edward;
Dankert-Roelse, Jeannette

Publication type:

Article

Primary ovarian insufficiency in classic galactosemia: role of FSH dysfunction and timing of the lesion.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 1, p. 29, doi. 10.1007/s10545-012-9497-7

By:

Gubbels, Cynthia;
Land, Jolande;
Evers, Johannes;
Bierau, Jörgen;
Menheere, Paul;
Robben, Simon;
Rubio-Gozalbo, M.

Publication type:

Article

Substrate metabolism during basal and hyperinsulinemic conditions in adolescents and young-adults with Barth syndrome.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 1, p. 91, doi. 10.1007/s10545-012-9486-x

By:

Cade, W.;
Spencer, Carolyn;
Reeds, Dominic;
Waggoner, Alan;
O'Connor, Robert;
Maisenbacher, Melissa;
Crowley, Jan;
Byrne, Barry;
Peterson, Linda

Publication type:

Article

Prevalence of tetrahydrobiopterine (BH4)-responsive alleles among Austrian patients with PAH deficiency: comprehensive results from molecular analysis in 147 patients.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 1, p. 7, doi. 10.1007/s10545-012-9485-y

By:

Sterl, Elisabeth;
Paul, Karl;
Paschke, Eduard;
Zschocke, Johannes;
Brunner-Krainz, Michaela;
Windisch, Eva;
Konstantopoulou, Vassiliki;
Möslinger, Dorothea;
Karall, Daniela;
Scholl-Bürgi, Sabine;
Sperl, Wolfgang;
Lagler, Florian;
Plecko, Barbara

Publication type:

Article

Functional and electrophysiological characterization of four non-truncating mutations responsible for creatine transporter ( SLC6A8) deficiency syndrome.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 1, p. 103, doi. 10.1007/s10545-012-9495-9

By:

Valayannopoulos, Vassili;
Bakouh, Naziha;
Mazzuca, Michel;
Nonnenmacher, Luc;
Hubert, Laurence;
Makaci, Fatna-Léa;
Chabli, Allel;
Salomons, Gajja;
Mellot-Draznieks, Caroline;
Brulé, Emilie;
Lonlay, Pascale;
Toulhoat, Hervé;
Munnich, Arnold;
Planelles, Gabrielle;
Keyzer, Yves

Publication type:

Article

The IVS8-2A>G (c.913-2A>G) mutation and the PAH deficiency populations of Central Europe.

Published in:

2013

By:

Groselj, Urh;
Tansek, Mojca;
Podkrajsek, Katarina;
Battelino, Tadej

Publication type:

Letter

Measurement of plasma B vitamer profiles in children with inborn errors of vitamin B metabolism using an LC-MS/MS method.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 1, p. 139, doi. 10.1007/s10545-012-9493-y

By:

Footitt, Emma;
Clayton, Peter;
Mills, Kevin;
Heales, Simon;
Neergheen, Viruna;
Oppenheim, Marcus;
Mills, Philippa

Publication type:

Article

Classical Galactosaemia in Ireland: incidence, complications and outcomes of treatment.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 1, p. 21, doi. 10.1007/s10545-012-9507-9

By:

Coss, K.;
Doran, P.;
Owoeye, C.;
Codd, M.;
Hamid, N.;
Mayne, P.;
Crushell, E.;
Knerr, I.;
Monavari, A.;
Treacy, E.

Publication type:

Article

Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblings.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 1, p. 55, doi. 10.1007/s10545-012-9489-7

By:

Haack, Tobias;
Rolinski, Boris;
Haberberger, Birgit;
Zimmermann, Franz;
Schum, Jessica;
Strecker, Valentina;
Graf, Elisabeth;
Athing, Uwe;
Hoppen, Thomas;
Wittig, Ilka;
Sperl, Wolfgang;
Freisinger, Peter;
Mayr, Johannes;
Strom, Tim;
Meitinger, Thomas;
Prokisch, Holger

Publication type:

Article

Plasma succinylacetone is persistently raised after liver transplantation in tyrosinaemia type 1.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 1, p. 15, doi. 10.1007/s10545-012-9482-1

By:

Bartlett, David;
Preece, Mary;
Holme, Elisabeth;
Lloyd, Carla;
Newsome, Phil;
McKiernan, Patrick

Publication type:

Article

Fertility and pregnancy in women affected by glycogen storage disease type I, results of a multicenter Italian study.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 1, p. 83, doi. 10.1007/s10545-012-9490-1

By:

Sechi, Annalisa;
Deroma, Laura;
Lapolla, Annunziata;
Paci, Sabrina;
Melis, Daniela;
Burlina, Alberto;
Carubbi, Francesca;
Rigoldi, Miriam;
Di Rocco, Maja

Publication type:

Article

Erratum to: Relationship between enzyme properties and disease progression in Canavan disease.

Published in:

2013

By:

Zano, Stephen;
Wijayasinghe, Yasanandana;
Malik, Radhika;
Smith, Joshua;
Viola, Ronald

Publication type:

Correction Notice

Lipid biomarkers of oxidative stress in a genetic mouse model of Smith-Lemli-Opitz syndrome.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 1, p. 113, doi. 10.1007/s10545-012-9504-z

By:

Korade, Zeljka;
Xu, Libin;
Mirnics, Karoly;
Porter, Ned

Publication type:

Article

Skeletal manifestations in pediatric and adult patients with Niemann Pick disease type B.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 1, p. 123, doi. 10.1007/s10545-012-9503-0

By:

Wasserstein, Melissa;
Godbold, James;
McGovern, Margaret

Publication type:

Article

Human neuronal coenzyme Q deficiency results in global loss of mitochondrial respiratory chain activity, increased mitochondrial oxidative stress and reversal of ATP synthase activity: implications for pathogenesis and treatment.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 1, p. 63, doi. 10.1007/s10545-012-9511-0

By:

Duberley, Kate;
Abramov, Andrey;
Chalasani, Annapurna;
Heales, Simon;
Rahman, Shamima;
Hargreaves, Iain

Publication type:

Article

Sustained high plasma mannose less sensitive to fluctuating blood glucose in glycogen storage disease type Ia children.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 1, p. 75, doi. 10.1007/s10545-012-9514-x

By:

Nagasaka, Hironori;
Yorifuji, Tohru;
Bandsma, Robert;
Takatani, Tomozumi;
Asano, Hisaki;
Mochizuki, Hiroshi;
Takuwa, Mayuko;
Tsukahara, Hirokazu;
Inui, Ayano;
Tsunoda, Tomoyuki;
Komatsu, Haruki;
Hiejima, Eitaro;
Fujisawa, Tomoo;
Hirano, Ken-ichi;
Miida, Takashi;
Ohtake, Akira;
Taguchi, Tadao;
Miwa, Ichitomo

Publication type:

Article

Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 1, p. 43, doi. 10.1007/s10545-012-9487-9

By:

Cassandrini, Denise;
Cilio, Maria;
Bianchi, Marzia;
Doimo, Mara;
Balestri, Martina;
Tessa, Alessandra;
Rizza, Teresa;
Sartori, Geppo;
Meschini, Maria;
Nesti, Claudia;
Tozzi, Giulia;
Petruzzella, Vittoria;
Piemonte, Fiorella;
Bisceglia, Luigi;
Bruno, Claudio;
Dionisi-Vici, Carlo;
D'Amico, Adele;
Fattori, Fabiana;
Carrozzo, Rosalba;
Salviati, Leonardo

Publication type:

Article

Long-term efficacy of miglustat in paediatric patients with Niemann-Pick disease type C.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 1, p. 129, doi. 10.1007/s10545-012-9479-9

By:

Chien, Y.;
Peng, S.;
Yang, C.;
Lee, N.;
Tsai, L.;
Huang, A.;
Su, S.;
Tseng, C.;
Hwu, W.

Publication type:

Article