Works matching IS 01418955 AND DT 2013 AND VI 36

Results: 127

Enzyme replacement therapy for alpha-mannosidosis: 12 months follow-up of a single centre, randomised, multiple dose study.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 6, p. 1015, doi. 10.1007/s10545-013-9595-1

By:

Borgwardt, L.;
Dali, C.;
Fogh, J.;
Månsson, J.;
Olsen, K.;
Beck, H.;
Nielsen, K.;
Nielsen, L.;
Olsen, S.;
Riise Stensland, H.;
Nilssen, O.;
Wibrand, F.;
Thuesen, A.;
Pearl, T.;
Haugsted, U.;
Saftig, P.;
Blanz, J.;
Jones, S.;
Tylki-Szymanska, A.;
Guffon-Fouiloux, N.

Publication type:

Article

Unknown pathomechanisms of renal impairment in PKU.

Published in:

2013

By:

Hennermann, Julia;
Querfeld, Uwe

Publication type:

Letter

S-adenosylmethionine and S-adenosylhomocysteine in plasma and cerebrospinal fluid in Rett syndrome and the effect of folinic acid supplementation.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 6, p. 967, doi. 10.1007/s10545-013-9590-6

By:

Hagebeuk, Eveline;
Duran, Marinus;
Abeling, Nico;
Vyth, Arno;
Poll-The, Bwee

Publication type:

Article

Evoked potentails and neurocognitive functions in pediatric Egyptian Gaucher patients on enzyme replacement therapy: a single center experience.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 6, p. 1025, doi. 10.1007/s10545-013-9597-z

By:

Tantawy, Azza;
Sherif, Eman;
Adly, Amira;
Hassanine, Sahar;
Awad, Amina

Publication type:

Article

Mutations in the AGXT2L2 gene cause phosphohydroxylysinuria.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 6, p. 961, doi. 10.1007/s10545-012-9568-9

By:

Veiga-da-Cunha, Maria;
Verhoeven-Duif, Nanda;
Koning, Tom;
Duran, Marinus;
Dorland, Bert;
Schaftingen, Emile

Publication type:

Article

Farber lipogranulomatosis with predominant joint involvement mimicking juvenile idiopathic arthritis.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 6, p. 1079, doi. 10.1007/s10545-012-9573-z

By:

Kostik, Mikhail;
Chikova, Irina;
Avramenko, Vladislav;
Vasyakina, Laly;
Trionnaire, Emmanuelle;
Chasnyk, Vyacheslav;
Levade, Thierry

Publication type:

Article

Disappearance of congenital noncompaction in hereditary cobalamin-C-deficiency 2.5 years after birth.

Published in:

2013

By:

Finsterer, Josef;
Stöllberger, Claudia

Publication type:

Letter

Hypertrichosis in presymptomatic mitochondrial disease.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 6, p. 1081, doi. 10.1007/s10545-013-9593-3

By:

Baertling, Fabian;
Mayatepek, Ertan;
Distelmaier, Felix

Publication type:

Article

Retinal characteristics of the congenital disorder of glycosylation PMM2-CDG.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 6, p. 1039, doi. 10.1007/s10545-013-9594-2

By:

Thompson, Dorothy;
Lyons, Ruth;
Russell-Eggitt, Isabelle;
Liasis, Alki;
Jägle, Herbert;
Grünewald, Stephanie

Publication type:

Article

Transaldolase deficiency: report of 12 new cases and further delineation of the phenotype.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 6, p. 997, doi. 10.1007/s10545-012-9577-8

By:

Eyaid, Wafaa;
Al Harbi, Talal;
Anazi, Shamsa;
Wamelink, Mirjam;
Jakobs, Cornelis;
Al Salammah, Mohammad;
Al Balwi, Mohammed;
Alfadhel, Majid;
Alkuraya, Fowzan

Publication type:

Article

Craniocervical decompression in patients with mucopolysaccharidosis VI: development of a scoring system to determine indication and outcome of surgery.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 6, p. 1005, doi. 10.1007/s10545-013-9591-5

By:

Lampe, Christina;
Lampe, Christian;
Schwarz, Manfred;
Müller-Forell, Wibke;
Harmatz, Paul;
Mengel, Eugen

Publication type:

Article

The brain in late-onset glycogenosis II: a structural and functional MRI study.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 6, p. 989, doi. 10.1007/s10545-013-9601-7

By:

Borroni, Barbara;
Cotelli, M.;
Premi, E.;
Gazzina, S.;
Cosseddu, M.;
Formenti, A.;
Gasparotti, R.;
Filosto, M.;
Padovani, A.

Publication type:

Article

Carnitine supplementation attenuates myocardial lipid accumulation in long-chain acyl-CoA dehydrogenase knockout mice.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 6, p. 973, doi. 10.1007/s10545-013-9604-4

By:

Bakermans, Adrianus;
Weeghel, Michel;
Denis, Simone;
Nicolay, Klaas;
Prompers, Jeanine;
Houten, Sander

Publication type:

Article

Noncompaction of the ventricular myocardium and hydrops fetalis in cobalamin C disease.

Published in:

2013

By:

Tanpaiboon, Pranoot;
Venditti, Charles

Publication type:

Letter

Increased human dermal microvascular endothelial cell survival induced by cysteamine.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 6, p. 1073, doi. 10.1007/s10545-013-9588-0

By:

Besouw, M.;
Heuvel, L.;
Eijsden, R.;
Bongaers, I.;
Kluijtmans, L.;
Dewerchin, M.;
Levtchenko, E.

Publication type:

Article

Structural white matter changes in adolescents and young adults with maple syrup urine disease.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 6, p. 945, doi. 10.1007/s10545-012-9582-y

By:

Klee, D.;
Thimm, E.;
Wittsack, H.;
Schubert, D.;
Primke, R.;
Pentang, G.;
Schaper, J.;
Mödder, U.;
Antoch, A.;
Wendel, U.;
Cohnen, M.

Publication type:

Article

Treatment of acute decompensation of maple syrup urine disease in adult patients with a new parenteral amino-acid mixture.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 6, p. 939, doi. 10.1007/s10545-012-9570-2

By:

Servais, A.;
Arnoux, J.;
Lamy, C.;
Hummel, A.;
Vittoz, N.;
Katerinis, I.;
Bazzaoui, V.;
Dubois, S.;
Broissand, C.;
Husson, M.;
Berleur, M.;
Rabier, D.;
Ottolenghi, C.;
Valayannopoulos, V.;
Lonlay, P.

Publication type:

Article

Left ventricular noncompaction (LVNC) and low mitochondrial membrane potential are specific for Barth syndrome.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 6, p. 929, doi. 10.1007/s10545-013-9584-4

By:

Karkucinska-Wieckowska, Agnieszka;
Trubicka, Joanna;
Werner, Bozena;
Kokoszynska, Katarzyna;
Pajdowska, Magdalena;
Pronicki, Maciej;
Czarnowska, Elzbieta;
Lebiedzinska, Magdalena;
Sykut-Cegielska, Jolanta;
Ziolkowska, Lidia;
Jaron, Weronika;
Dobrzanska, Anna;
Ciara, Elzbieta;
Wieckowski, Mariusz;
Pronicka, Ewa

Publication type:

Article

In vitro read-through of phenylalanine hydroxylase ( PAH) nonsense mutations using aminoglycosides: a potential therapy for phenylketonuria.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 6, p. 955, doi. 10.1007/s10545-013-9602-6

By:

Ho, Gladys;
Reichardt, Juergen;
Christodoulou, John

Publication type:

Article

3-Methylglutaconic aciduria-lessons from 50 genes and 977 patients.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 6, p. 913, doi. 10.1007/s10545-012-9579-6

By:

Wortmann, Saskia;
Kluijtmans, Leo;
Rodenburg, Richard;
Sass, Jörn;
Nouws, Jessica;
Kaauwen, Edwin;
Kleefstra, Tjitske;
Tranebjaerg, Lisbeth;
Vries, Maaike;
Isohanni, Pirjo;
Walter, Katharina;
Alkuraya, Fowzan;
Smuts, Izelle;
Reinecke, Carolus;
Westhuizen, Francois;
Thorburn, David;
Smeitink, Jan;
Morava, Eva;
Wevers, Ron

Publication type:

Article

Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 6, p. 923, doi. 10.1007/s10545-012-9580-0

By:

Wortmann, Saskia;
Duran, Marinus;
Anikster, Yair;
Barth, Peter;
Sperl, Wolfgang;
Zschocke, Johannes;
Morava, Eva;
Wevers, Ron

Publication type:

Article

Erratum to: Increased glucocerebrosidase (GBA) 2 activity in GBA1 deficient mice brains and in Gaucher leucocytes.

Published in:

2013

By:

Burke, Derek;
Rahim, Ahad;
Waddington, Simon;
Karlsson, Stefan;
Enquist, Ida;
Bhatia, Kailash;
Mehta, Atul;
Vellodi, Ashok;
Heales, Simon

Publication type:

Correction Notice

High risk of primary liver cancer in a cohort of 179 patients with Acute Hepatic Porphyria.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 6, p. 1063, doi. 10.1007/s10545-012-9576-9

By:

Sardh, Eliane;
Wahlin, Staffan;
Björnstedt, Mikael;
Harper, Pauline;
Andersson, Dan

Publication type:

Article

A structural mapping of mutations causing succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 6, p. 983, doi. 10.1007/s10545-013-9589-z

By:

Shafqat, Naeem;
Kavanagh, Kate;
Sass, Jörn;
Christensen, Ernst;
Fukao, Toshiyuki;
Lee, Wen;
Oppermann, Udo;
Yue, Wyatt

Publication type:

Article

Cryptic residual GALT activity is a potential modifier of scholastic outcome in school age children with classic galactosemia.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 6, p. 1049, doi. 10.1007/s10545-012-9575-x

By:

Ryan, Emily;
Lynch, Mary;
Taddeo, Elles;
Gleason, Tyler;
Epstein, Michael;
Fridovich-Keil, Judith

Publication type:

Article

Author Index.

Published in:: Journal of Inherited Metabolic Disease, 2013, v. 36, p. 343, doi. 10.1007/s10545-013-9636-9
Publication type:: Article

ICIEM Abstracts.

Published in:: Journal of Inherited Metabolic Disease, 2013, v. 36, p. 91, doi. 10.1007/s10545-013-9633-z
Publication type:: Article

ICIEM 2013 12th International Congress of Inborn Errors of Metabolism.

Published in:: Journal of Inherited Metabolic Disease, 2013, v. 36, p. 55, doi. 10.1007/s10545-013-9635-x
Publication type:: Article

Normal rates of whole-body fat oxidation and gluconeogenesis after overnight fasting and moderate-intensity exercise in patients with medium-chain acyl-CoA dehydrogenase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 5, p. 831, doi. 10.1007/s10545-012-9532-8

By:

Huidekoper, Hidde;
Ackermans, Mariëtte;
Koopman, René;
Loon, Luc;
Sauerwein, Hans;
Wijburg, Frits

Publication type:

Article

Clinical and biochemical features associated with BCS1L mutation.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 5, p. 813, doi. 10.1007/s10545-012-9536-4

By:

Al-Owain, Mohammed;
Colak, Dilek;
Albakheet, Albandary;
Al-Younes, Banan;
Al-Humaidi, Zainab;
Al-Sayed, Moeen;
Al-Hindi, Hindi;
Al-Sugair, Abdulaziz;
Al-Muhaideb, Ahmed;
Rahbeeni, Zuhair;
Al-Sehli, Abdullah;
Al-Fadhli, Fatima;
Ozand, Pinar;
Taylor, Robert;
Kaya, Namik

Publication type:

Article

The male reproductive system in classic galactosemia: cryptorchidism and low semen volume.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 5, p. 779, doi. 10.1007/s10545-012-9539-1

By:

Gubbels, Cynthia;
Welt, Corrine;
Dumoulin, John;
Robben, Simon;
Gordon, Catherine;
Dunselman, Gerard;
Rubio-Gozalbo, M.;
Berry, Gerard

Publication type:

Article

Cross-sectional baseline analysis of electrocardiography in a large cohort of patients with untreated Fabry disease.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 5, p. 873, doi. 10.1007/s10545-012-9540-8

By:

Niemann, Markus;
Hartmann, Tanja;
Namdar, Mehdi;
Breunig, Frank;
Beer, Meinrad;
Machann, Wolfram;
Herrmann, Sebastian;
Ertl, Georg;
Wanner, Christoph;
Weidemann, Frank

Publication type:

Article

Muscle fiber-type distribution, fiber-type-specific damage, and the Pompe disease phenotype.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 5, p. 787, doi. 10.1007/s10545-012-9541-7

By:

Berg, L.;
Drost, M.;
Schaart, G.;
Laat, J.;
Doorn, P.;
Ploeg, A.;
Reuser, A.

Publication type:

Article

Clinical and biological features at diagnosis in mitochondrial fatty acid beta-oxidation defects: a French pediatric study of 187 patients.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 5, p. 795, doi. 10.1007/s10545-012-9542-6

By:

Baruteau, Julien;
Sachs, Philippe;
Broué, Pierre;
Brivet, Michèle;
Abdoul, Hendy;
Vianey-Saban, Christine;
Ogier de Baulny, Hélène

Publication type:

Article

Prediction of the functional effect of novel SLC25A13 variants using a S. cerevisiae model of AGC2 deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 5, p. 821, doi. 10.1007/s10545-012-9543-5

By:

Wongkittichote, Parith;
Tungpradabkul, Sumalee;
Wattanasirichaigoon, Duangrurdee;
Jensen, Laran

Publication type:

Article

The incidence of inherited porphyrias in Europe.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 5, p. 849, doi. 10.1007/s10545-012-9544-4

By:

Elder, George;
Harper, Pauline;
Badminton, Michael;
Sandberg, Sverre;
Deybach, Jean-Charles

Publication type:

Article

Functional characterization of novel genotypes and cellular oxidative stress studies in propionic acidemia.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 5, p. 731, doi. 10.1007/s10545-012-9545-3

By:

Gallego-Villar, Lorena;
Pérez-Cerdá, Celia;
Pérez, Belén;
Abia, David;
Ugarte, Magdalena;
Richard, Eva;
Desviat, Lourdes

Publication type:

Article

Lyso-globotriaosylsphingosine (lyso-Gb) levels in neonates and adults with the Fabry disease later-onset GLA IVS4+919G>A mutation.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 5, p. 881, doi. 10.1007/s10545-012-9547-1

By:

Chien, Yin-Hsiu;
Bodamer, Olaf;
Chiang, Shu-Chuan;
Mascher, Hermann;
Hung, Christina;
Hwu, Wuh-Liang

Publication type:

Article

Chronic kidney disease in adolescent and adult patients with phenylketonuria.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 5, p. 747, doi. 10.1007/s10545-012-9548-0

By:

Hennermann, Julia;
Roloff, Sylvia;
Gellermann, Jutta;
Vollmer, Ilka;
Windt, Elke;
Vetter, Barbara;
Plöckinger, Ursula;
Mönch, Eberhard;
Querfeld, Uwe

Publication type:

Article

Chronic administration of branched-chain amino acids impairs spatial memory and increases brain-derived neurotrophic factor in a rat model.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 5, p. 721, doi. 10.1007/s10545-012-9549-z

By:

Scaini, Giselli;
Comim, Clarissa;
Oliveira, Giovanna;
Pasquali, Matheus;
Quevedo, João;
Gelain, Daniel;
Moreira, José;
Schuck, Patrícia;
Ferreira, Gustavo;
Bogo, Maurício;
Streck, Emilio

Publication type:

Article

Demographics, diagnosis and treatment of 256 patients with tetrahydrobiopterin deficiency in mainland China: results of a retrospective, multicentre study.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 5, p. 893, doi. 10.1007/s10545-012-9550-6

By:

Ye, Jun;
Yang, Yanling;
Yu, Weimin;
Zou, Hui;
Jiang, Jianhui;
Yang, Rulai;
Shang, Sunny;
Gu, Xuefan

Publication type:

Article

Diagnosis of Barth syndrome using a novel LC-MS/MS method for leukocyte cardiolipin analysis.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 5, p. 741, doi. 10.1007/s10545-012-9552-4

By:

Bowron, Ann;
Frost, Robert;
Powers, Vicki;
Thomas, Paul;
Heales, Simon;
Steward, Colin

Publication type:

Article

Fumarylacetoacetate inhibits the initial step of the base excision repair pathway: implication for the pathogenesis of tyrosinemia type I.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 5, p. 773, doi. 10.1007/s10545-012-9556-0

By:

Bliksrud, Yngve;
Ellingsen, Amund;
Bjørås, Magnar

Publication type:

Article

Important aspects in the molecular diagnosis of mucopolysaccharidoses.

Published in:

2013

By:

Brusius-Facchin, Ana;
Kubaski, Francyne;
Giugliani, Roberto;
Leistner-Segal, Sandra

Publication type:

Letter

Krabbe disease in adults: phenotypic and genotypic update from a series of 11 cases and a review.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 5, p. 859, doi. 10.1007/s10545-012-9560-4

By:

Debs, Rabab;
Froissart, Roseline;
Aubourg, Patrick;
Papeix, Caroline;
Douillard, Claire;
Degos, Bertrand;
Fontaine, Bertrand;
Audoin, Bertrand;
Lacour, Arnaud;
Said, Gérard;
Vanier, Marie;
Sedel, Frédéric

Publication type:

Article

Increased glucocerebrosidase (GBA) 2 activity in GBA1 deficient mice brains and in Gaucher leucocytes.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 5, p. 869, doi. 10.1007/s10545-012-9561-3

By:

Burke, Derek;
Rahim, Ahad;
Waddington, Simon;
Karlsson, Stefan;
Enquist, Ida;
Bhatia, Kailash;
Mehta, Atul;
Vellodi, Ashok;
Heales, Simon

Publication type:

Article

Estimating the probability of IQ impairment from blood phenylalanine for phenylketonuria patients: a hierarchical meta-analysis.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 5, p. 757, doi. 10.1007/s10545-012-9564-0

By:

Fonnesbeck, Christopher;
McPheeters, Melissa;
Krishnaswami, Shanthi;
Lindegren, Mary;
Reimschisel, Tyler

Publication type:

Article

9 International Conference On Homocysteine and One-Carbon Metabolism - HCY2013.

Published in:: Journal of Inherited Metabolic Disease, 2013, v. 36, p. 1, doi. 10.1007/s10545-013-9631-1
Publication type:: Article

Health-related quality of life in children and adolescents with phenylketonuria: unimpaired HRQoL in patients but feared school failure in parents.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 5, p. 767, doi. 10.1007/s10545-012-9566-y

By:

Thimm, Eva;
Schmidt, Lisa;
Heldt, Katrin;
Spiekerkoetter, Ute

Publication type:

Article

Antenatal manifestations of mitochondrial disorders.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 5, p. 805, doi. 10.1007/s10545-012-9567-x

By:

Tavares, Mariana;
Santos, Maria;
Domingues, Ana;
Pratas, João;
Mendes, Cândida;
Simões, Marta;
Moura, Paulo;
Diogo, Luísa;
Grazina, Manuela

Publication type:

Article