Works matching IS 01418955 AND DT 2012 AND VI 35 AND IP 1

Results: 21

Propionic acidemia: neonatal versus selective metabolic screening.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 1, p. 41, doi. 10.1007/s10545-011-9419-0

By:

Grünert, S. C.;
Müllerleile, S.;
de Silva, L.;
Barth, M.;
Walter, M.;
Walter, K.;
Meissner, T.;
Lindner, M.;
Ensenauer, R.;
Santer, R.;
Bodamer, O. A.;
Baumgartner, M. R.;
Brunner-Krainz, M.;
Karall, D.;
Haase, C.;
Knerr, I.;
Marquardt, T.;
Hennermann, J. B.;
Steinfeld, R.;
Beblo, S.

Publication type:

Article

HSD10 disease: clinical consequences of mutations in the HSD17B10 gene.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 1, p. 81, doi. 10.1007/s10545-011-9415-4

By:

Zschocke, Johannes

Publication type:

Article

Mutation analysis in 54 propionic acidemia patients.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 1, p. 51, doi. 10.1007/s10545-011-9399-0

By:

Kraus, J. P.;
Spector, E.;
Venezia, S.;
Estes, P.;
Chiang, P. W.;
Creadon-Swindell, G.;
Müllerleile, S.;
de Silva, L.;
Barth, M.;
Walter, M.;
Walter, K.;
Meissner, T.;
Lindner, M.;
Ensenauer, R.;
Santer, R.;
Bodamer, O. A.;
Baumgartner, M. R.;
Brunner-Krainz, M.;
Karall, D.;
Haase, C.

Publication type:

Article

In response to “Prenatal screening of sialic acid storage disease and confirmation in cultured fibroblasts by LC-MS/MS” by van den Bosch et al.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 1, p. 177, doi. 10.1007/s10545-011-9414-5

By:

Albersen, M.;
van der Ham, M.;
Verhoeven-Duif, N. M.;
Groenendaal, F.;
de Sain-van der Velden, M. G. M.

Publication type:

Article

Clinical practice and the development of evidence.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 1, p. 3, doi. 10.1007/s10545-011-9380-y

By:

Wilcken, Bridget

Publication type:

Article

Disorders of the degradation of branched chain amino acids: What is new in clinics and laboratories?

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 1, p. 1, doi. 10.1007/s10545-011-9420-7

By:

Sass, Jörn Oliver

Publication type:

Article

Combined methylmalonic acidemia and homocystinuria, cblC type. II. Complications, pathophysiology, and outcomes.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 1, p. 103, doi. 10.1007/s10545-011-9365-x

By:

Carrillo-Carrasco, Nuria;
Venditti, Charles

Publication type:

Article

The 3-methylglutaconic acidurias: what's new?

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 1, p. 13, doi. 10.1007/s10545-010-9210-7

By:

Wortmann, Saskia;
Kluijtmans, Leo;
Engelke, Udo;
Wevers, Ron;
Morava, Eva

Publication type:

Article

Enzymology of the branched-chain amino acid oxidation disorders: the valine pathway.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 1, p. 5, doi. 10.1007/s10545-010-9236-x

By:

Wanders, Ronald;
Duran, Marinus;
Loupatty, Ference

Publication type:

Article

Amino acid metabolism in patients with propionic acidaemia.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 1, p. 65, doi. 10.1007/s10545-010-9245-9

By:

Scholl-Bürgi, Sabine;
Sass, Jörn;
Zschocke, Johannes;
Karall, Daniela

Publication type:

Article

Advances and challenges in the treatment of branched-chain amino/keto acid metabolic defects.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 1, p. 29, doi. 10.1007/s10545-010-9269-1

By:

Knerr, Ina;
Weinhold, Natalie;
Vockley, Jerry;
Gibson, K.

Publication type:

Article

Inborn errors of ketogenesis and ketone body utilization.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 1, p. 23, doi. 10.1007/s10545-011-9324-6

By:

Sass, Jörn

Publication type:

Article

Interrupting the mechanisms of brain injury in a model of maple syrup urine disease encephalopathy.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 1, p. 71, doi. 10.1007/s10545-011-9333-5

By:

Zinnanti, William;
Lazovic, Jelena

Publication type:

Article

Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 1, p. 141, doi. 10.1007/s10545-011-9345-1

By:

Kamp, Jiddeke;
Pouwels, Petra;
Aarsen, Femke;
Hoopen, Leontine;
Knol, Dirk;
Klerk, Johannes;
Coo, Ireneus;
Huijmans, Jan;
Jakobs, Cornelis;
Knaap, Marjo;
Salomons, Gajja;
Mancini, Grazia

Publication type:

Article

Combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 1, p. 125, doi. 10.1007/s10545-011-9348-y

By:

Saada, Ann;
Edvardson, Shimon;
Shaag, Avraham;
Chung, Wendy;
Segel, Reeval;
Miller, Chaya;
Jalas, Chaim;
Elpeleg, Orly

Publication type:

Article

Aberrant expression of costimulatory molecules in splenocytes of the mevalonate kinase-deficient mouse model of human hyper-IgD syndrome (HIDS).

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 1, p. 159, doi. 10.1007/s10545-011-9349-x

By:

Hager, Elizabeth;
Piganelli, Jon;
Tse, Hubert;
Gibson, K.

Publication type:

Article

Putting a value on the avoidance of false positive results when screening for inherited metabolic disease in the newborn.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 1, p. 169, doi. 10.1007/s10545-011-9354-0

By:

Dixon, Simon;
Shackley, Phil;
Bonham, Jim;
Ibbotson, Rachel

Publication type:

Article

Variability in the clinical management of fatty acid oxidation disorders: results of a survey of Canadian metabolic physicians.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 1, p. 115, doi. 10.1007/s10545-011-9352-2

By:

Potter, Beth;
Little, Julian;
Chakraborty, Pranesh;
Kronick, Jonathan;
Evans, Jessica;
Frei, Julia;
Sutherland, Sarah;
Wilson, Kumanan;
Wilson, Brenda

Publication type:

Article

Treatment by oral creatine, L-arginine and L-glycine in six severely affected patients with creatine transporter defect.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 1, p. 151, doi. 10.1007/s10545-011-9358-9

By:

Valayannopoulos, Vassili;
Boddaert, Nathalie;
Chabli, Allel;
Barbier, Valerie;
Desguerre, Isabelle;
Philippe, Anne;
Afenjar, Alexandra;
Mazzuca, Michel;
Cheillan, David;
Munnich, Arnold;
Keyzer, Yves;
Jakobs, Cornelis;
Salomons, Gajja;
Lonlay, Pascale

Publication type:

Article

Bacterial expression of mutant argininosuccinate lyase reveals imperfect correlation of in- vitro enzyme activity with clinical phenotype in argininosuccinic aciduria.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 1, p. 133, doi. 10.1007/s10545-011-9357-x

By:

Engel, Katharina;
Vuissoz, Jean-Marc;
Eggimann, Sandra;
Groux, Murielle;
Berning, Christoph;
Hu, Liyan;
Klaus, Vera;
Moeslinger, Dorothea;
Mercimek-Mahmutoglu, Saadet;
Stöckler, Sylvia;
Wermuth, Bendicht;
Häberle, Johannes;
Nuoffer, Jean-Marc

Publication type:

Article

Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 1, p. 91, doi. 10.1007/s10545-011-9364-y

By:

Carrillo-Carrasco, Nuria;
Chandler, Randy;
Venditti, Charles

Publication type:

Article