Works matching IS 01418955 AND DT 2014 AND VI 37 AND IP 2

Results: 19

Performance of serum and dried blood spot acylcarnitine profiles for detection of fatty acid β-oxidation disorders in adult patients with rhabdomyolysis.

Published in:

Journal of Inherited Metabolic Disease, 2014, v. 37, n. 2, p. 207, doi. 10.1007/s10545-012-9578-7

By:

Al-Thihli, Khalid;
Sinclair, Graham;
Sirrs, Sandra;
Mezei, Michelle;
Nelson, Judie;
Vallance, Hilary

Publication type:

Article

Potential role of vitamin D deficiency on Fabry cardiomyopathy.

Published in:

Journal of Inherited Metabolic Disease, 2014, v. 37, n. 2, p. 289, doi. 10.1007/s10545-013-9653-8

By:

Drechsler, Christiane;
Schmiedeke, Benjamin;
Niemann, Markus;
Schmiedeke, Daniel;
Krämer, Johannes;
Turkin, Irina;
Blouin, Katja;
Emmert, Andrea;
Pilz, Stefan;
Obermayer-Pietsch, Barbara;
Weidemann, Frank;
Breunig, Frank;
Wanner, Christoph

Publication type:

Article

Cognitive dysfunction and depression in Fabry disease: a systematic review.

Published in:

Journal of Inherited Metabolic Disease, 2014, v. 37, n. 2, p. 177, doi. 10.1007/s10545-013-9643-x

By:

Bolsover, Fay;
Murphy, Elaine;
Cipolotti, Lisa;
Werring, David;
Lachmann, Robin

Publication type:

Article

Oral manifestations of 17 patients affected with mucopolysaccharidosis type VI.

Published in:

Journal of Inherited Metabolic Disease, 2014, v. 37, n. 2, p. 263, doi. 10.1007/s10545-013-9645-8

By:

Kantaputra, Piranit;
Kayserili, Hülya;
Güven, Yeliz;
Kantaputra, Warissara;
Balci, Mehmet;
Tanpaiboon, Pranoot;
Uttarilli, Anusha;
Dalal, Ashwin

Publication type:

Article

Non-specific accumulation of glycosphingolipids in GNE myopathy.

Published in:

Journal of Inherited Metabolic Disease, 2014, v. 37, n. 2, p. 297, doi. 10.1007/s10545-013-9655-6

By:

Patzel, Katherine;
Yardeni, Tal;
Poëc-Celic, Erell;
Leoyklang, Petcharat;
Dorward, Heidi;
Alonzi, Dominic;
Kukushkin, Nikolay;
Xu, Bixue;
Zhang, Yongmin;
Sollogoub, Matthieu;
Blériot, Yves;
Gahl, William;
Huizing, Marjan;
Butters, Terry

Publication type:

Article

Considering consent: a structural equation modelling analysis of factors influencing decisional quality when accepting newborn screening.

Published in:

Journal of Inherited Metabolic Disease, 2014, v. 37, n. 2, p. 197, doi. 10.1007/s10545-013-9651-x

By:

Nicholls, Stuart;
Southern, Kevin

Publication type:

Article

Feasibility of newborn screening for guanidinoacetate methyltransferase (GAMT) deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2014, v. 37, n. 2, p. 231, doi. 10.1007/s10545-013-9662-7

By:

Pasquali, Marzia;
Schwarz, Elisabeth;
Jensen, Maren;
Yuzyuk, Tatiana;
DeBiase, Irene;
Randall, Harper;
Longo, Nicola

Publication type:

Article

Carnitine levels in 26,462 individuals from the nationwide screening program for primary carnitine deficiency in the Faroe Islands.

Published in:

Journal of Inherited Metabolic Disease, 2014, v. 37, n. 2, p. 215, doi. 10.1007/s10545-013-9606-2

By:

Rasmussen, Jan;
Nielsen, Olav;
Janzen, Nils;
Duno, Morten;
Køber, Lars;
Steuerwald, Ulrike;
Lund, Allan

Publication type:

Article

Living with an inborn error of metabolism detected by newborn screening-Parents' perspectives on child development and impact on family life.

Published in:

Journal of Inherited Metabolic Disease, 2014, v. 37, n. 2, p. 189, doi. 10.1007/s10545-013-9639-6

By:

Gramer, Gwendolyn;
Haege, Gisela;
Glahn, Esther;
Hoffmann, Georg;
Lindner, Martin;
Burgard, Peter

Publication type:

Article

50 years of newborn screening.

Published in:

2014

By:

Hoffmann, Georg;
Lindner, Martin;
Loeber, J.

Publication type:

Editorial

Tract-based evaluation of white matter damage in individuals with early-treated phenylketonuria.

Published in:

Journal of Inherited Metabolic Disease, 2014, v. 37, n. 2, p. 237, doi. 10.1007/s10545-013-9650-y

By:

Peng, Huiling;
Peck, Dawn;
White, Desirée;
Christ, Shawn

Publication type:

Article

Primary Carnitine deficiency in the Faroe Islands: health and cardiac status in 76 adult patients diagnosed by screening.

Published in:

Journal of Inherited Metabolic Disease, 2014, v. 37, n. 2, p. 223, doi. 10.1007/s10545-013-9640-0

By:

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

Publication type:

Article

Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients.

Published in:

Journal of Inherited Metabolic Disease, 2014, v. 37, n. 2, p. 245, doi. 10.1007/s10545-013-9647-6

By:

Mendes, Marisa;
Colaço, Henrique;
Smith, Desirée;
Ramos, Rúben;
Pop, Ana;
Dooren, Silvy;
Tavares de Almeida, Isabel;
Kluijtmans, Leo;
Janssen, Mirian;
Rivera, Isabel;
Salomons, Gajja;
Leandro, Paula;
Blom, Henk

Publication type:

Article

Therapeutic hepatocyte transplant for inherited metabolic disorders: functional considerations, recent outcomes and future prospects.

Published in:

Journal of Inherited Metabolic Disease, 2014, v. 37, n. 2, p. 165, doi. 10.1007/s10545-013-9656-5

By:

Vogel, Kara;
Kennedy, Andrew;
Whitehouse, Luke;
Gibson, K.

Publication type:

Article

S. Harvey Mudd.

Published in:: Journal of Inherited Metabolic Disease, 2014, v. 37, n. 2, p. 319, doi. 10.1007/s10545-014-9692-9
Publication type:: Article

Galsulfase (Naglazyme®) therapy in infants with mucopolysaccharidosis VI.

Published in:

Journal of Inherited Metabolic Disease, 2014, v. 37, n. 2, p. 277, doi. 10.1007/s10545-013-9654-7

By:

Harmatz, Paul;
Garcia, Paula;
Guffon, Nathalie;
Randolph, Linda;
Shediac, Renée;
Braunlin, Elizabeth;
Lachman, Ralph;
Decker, Celeste

Publication type:

Article

Enzyme replacement therapy on hypophosphatasia mouse model.

Published in:

Journal of Inherited Metabolic Disease, 2014, v. 37, n. 2, p. 309, doi. 10.1007/s10545-013-9646-7

By:

Oikawa, Hirotaka;
Tomatsu, Shunji;
Haupt, Bisong;
Montaño, Adriana;
Shimada, Tsutomu;
Sly, William

Publication type:

Article

Glycosaminoglycan metabolism defects and atherosclerosis: frequent association of endothelial dysfunction in patients with Mucopolysaccharidosis.

Published in:

Journal of Inherited Metabolic Disease, 2014, v. 37, n. 2, p. 255, doi. 10.1007/s10545-013-9642-y

By:

Yano, Shoji;
Moseley, Kathryn;
Wong, Lawrence;
Castelnovi, Claudia;
Azen, Colleen;
Pavlova, Zdena

Publication type:

Article

Mucopolysaccharidosis VI: cardiac involvement and the impact of enzyme replacement therapy.

Published in:

Journal of Inherited Metabolic Disease, 2014, v. 37, n. 2, p. 269, doi. 10.1007/s10545-013-9649-4

By:

Kampmann, Christoph;
Lampe, Christina;
Whybra-Trümpler, Catharina;
Wiethoff, Christiane;
Mengel, Eugen;
Arash, Laila;
Beck, Michael;
Miebach, Elke

Publication type:

Article