Works matching IS 01418955 AND DT 2012 AND VI 35 AND IP 5

Results: 21

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