Family conditions and dietary control in IEMs (English)
- New search for: Burgard, P.
- New search for: Burgard, P.
In:
JOURNAL OF INHERITED METABOLIC DISEASE
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30
, 5
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629
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2007
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ISSN:
- Article (Journal) / Print
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Title:Family conditions and dietary control in IEMs
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Contributors:Burgard, P. ( author )
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Published in:JOURNAL OF INHERITED METABOLIC DISEASE ; 30, 5 ; 629
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Publisher:
- New search for: Springer Science + Business Media
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Publication date:2007-01-01
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Size:629 pages
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ISSN:
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Type of media:Article (Journal)
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Type of material:Print
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Language:English
- New search for: 616.39
- Further information on Dewey Decimal Classification
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Classification:
DDC: 616.39 -
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© Metadata Copyright the British Library Board and other contributors. All rights reserved.
Table of contents – Volume 30, Issue 5
The tables of contents are generated automatically and are based on the data records of the individual contributions available in the index of the TIB portal. The display of the Tables of Contents may therefore be incomplete.
- 627
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IEMs in adultsWalter, John et al. | 2007
- 628
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α‐Ketoglutarate is the precursor of l‐2‐hydroxyglutarateBrunengraber, Henri et al. | 2007
- 629
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Family conditions and dietary control in IEMsBurgard, Peter et al. | 2007
- 631
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Psychiatric manifestations revealing inborn errors of metabolism in adolescents and adultsSedel, F. / Baumann, N. / Turpin, J.‐C. / Lyon‐Caen, O. / Saudubray, J.‐M. / Cohen, D. et al. | 2007
- 642
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Peripheral neuropathy and inborn errors of metabolism in adultsSedel, F. / Barnerias, C. / Dubourg, O. / Desguerres, I. / Lyon‐Caen, O. / Saudubray, Jean‐Marie et al. | 2007
- 654
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The pathogenesis and treatment of acid sphingomyelinase‐deficient Niemann–Pick diseaseSchuchman, E. H. et al. | 2007
- 664
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Cytoskeleton as a potential target in the neuropathology of maple syrup urine disease: Insight from animal studiesPessoa‐Pureur, R. / Wajner, M. et al. | 2007
- 673
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Biochemistry and bioenergetics of glutaryl‐CoA dehydrogenase deficiencySauer, S. W. et al. | 2007
- 681
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l‐2‐Hydroxyglutaric aciduria, a defect of metabolite repairRzem, R. / Vincent, M.‐F. / Van Schaftingen, E. / Veiga‐da‐Cunha, M. et al. | 2007
- 690
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Novel insights into L‐2‐hydroxyglutaric aciduria: Mass isotopomer studies reveal 2‐oxoglutaric acid as the metabolic precursor of L‐2‐hydroxyglutaric acidStruys, E. A. / Gibson, K. M. / Jakobs, C. et al. | 2007
- 694
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Growth and body composition in children with classical phenylketonuria: Results in 34 patients and review of the literatureHuemer, M. / Huemer, C. / Möslinger, D. / Huter, D. / Stöckler‐Ipsiroglu, S. et al. | 2007
- 700
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The response of patients with phenylketonuria and elevated serum phenylalanine to treatment with oral sapropterin dihydrochloride (6R‐tetrahydrobiopterin): a phase II, multicentre, open‐label, screening studyBurton, B. K. / Grange, D. K. / Milanowski, A. / Vockley, G. / Feillet, F. / Crombez, E. A. / Abadie, V. / Harding, C. O. / Cederbaum, S. / Dobbelaere, D. et al. | 2007
- 708
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Family conditions and dietary control in phenylketonuriaOlsson, G. M. / Montgomery, S. M. / Alm, J. et al. | 2007
- 716
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Nutrient intake in lysinuric protein intoleranceTanner, L. M. / Näntö‐Salonen, K. / Venetoklis, J. / Kotilainen, S. / Niinikoski, H. / Huoponen, K. / Simell, O. et al. | 2007
- 722
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High frequency of missense mutations in glycogen storage disease type VIBeauchamp, N. J. / Taybert, J. / Champion, M. P. / Layet, V. / Heinz‐Erian, P. / Dalton, A. / Tanner, M. S. / Pronicka, E. / Sharrard, M. J. et al. | 2007
- 735
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Detection of transaldolase deficiency by quantification of novel seven‐carbon chain carbohydrate biomarkers in urineWamelink, M. M. / Smith, D. E. / Jansen, E. E. / Verhoeven, N. M. / Struys, E. A. / Jakobs, C. et al. | 2007
- 743
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Upper airway obstructive disease in mucopolysaccharidoses: Polysomnography, computed tomography and nasal endoscopy findingsSantamaria, F. / Andreucci, M. V. / Parenti, G. / Polverino, M. / Viggiano, D. / Montella, S. / Cesaro, A. / Ciccarelli, R. / Capaldo, B. / Andria, G. et al. | 2007
- 750
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Cardiac abnormalities in adults with the attenuated form of mucopolysaccharidosis type ISoliman, O. I. I. / Timmermans, R. G. M. / Nemes, A. / Vletter, W. B. / Wilson, J. H. P. / ten Cate, F. J. / Geleijnse, M. L. et al. | 2007
- 758
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Effect of ‘attenuated’ mutations in mucopolysaccharidosis IVA on molecular phenotypes of N‐acetylgalactosamine‐6‐sulfate sulfataseMontaño, A. M. / Sukegawa, K. / Kato, Z. / Carrozzo, R. / Di Natale, P. / Christensen, E. / Orii, K. O. / Orii, T. / Kondo, N. / Tomatsu, S. et al. | 2007
- 768
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A severity scoring tool to assess the neurological features of neuronopathic Gaucher diseaseDavies, E. H. / Surtees, R. / DeVile, C. / Schoon, I. / Vellodi, A. et al. | 2007
- 783
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Outcome of enzyme replacement therapy in patients with Gaucher disease type I. The Romanian experienceSido, P. Grigorescu / Drugan, C. / Cret, V. / Al‐Kzouz, C. / Denes, C. / Coldea, C. / Zimmermann, A. et al. | 2007
- 790
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Natural history of the respiratory involvement in Anderson–Fabry diseaseMagage, S. / Lubanda, J.‐C. / Susa, Z. / Bultas, J. / Karetová, D. / Dobrovolný, R. / Hřebíček, M. / Germain, D. P. / Linhart, A. et al. | 2007
- 800
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Evidence for oxidative stress in tissues derived from succinate semialdehyde dehydrogenase‐deficient miceLatini, A. / Scussiato, K. / Leipnitz, G. / Gibson, K. M. / Wajner, M. et al. | 2007
- 811
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Marfanoid features in a child with combined methylmalonic aciduria and homocystinuria (CblC type)Heil, Sandra G. / Hogeveen, Marije / Kluijtmans, Leo A. J. / van Dijken, P. J. / van de Berg, Gerard B. / Blom, Henk J. / Morava, Eva et al. | 2007
- 812
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The tetrahydrobiopterin loading test in 36 patients with hyperphenylalaninaemia: Evaluation of response and subsequent treatmentBóveda, M. D. / Couce, M. L. / Castiñeiras, D. E. / Cocho, J. A. / Pérez, B. / Ugarte, M. / Fraga, J. M. et al. | 2007
- 813
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Complete deletion of ornithine transcarbamylase gene confirmed by CGH array of X chromosomeArranz, J. A. / Madrigal, I. / Riudor, E. / Armengol, Ll. / Milà, M. et al. | 2007
- 814
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Systemic lupus erythematosus‐like disease in a 6‐year‐old boy with prolidase deficiencyDi Rocco, M. / Fantasia, A. R. / Taro, M. / Loy, A. / Forlino, A. / Martini, A. et al. | 2007
- 815
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Prospective treatment in carnitine–acylcarnitine translocase deficiencyPierre, G. / Macdonald, A. / Gray, G. / Hendriksz, C. / Preece, M. A. / Chakrapani, A. et al. | 2007
- 816
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Deficiency of the carnitine transporter (OCTN2) with partial N‐acetylglutamate synthase (NAGS) deficiencyHwu, W.‐L. / Chien, Y.‐H. / Tang, N. L. S. / Law, L.‐K. / Lin, C.‐Y. / Lee, N.‐C. et al. | 2007
- 817
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Very long chain acyl‐CoA dehydrogenase deficiency in a pair of mildly affected monozygotic twin sister in their late fiftiesZia, A. / Kolodny, E. H. / Pastores, G. M. et al. | 2007
- 818
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Combination of enzyme analysis, allele‐specific PCR and sequencing to detect mutations in the GALT geneCalderon, F. R. O. / Nelson, L. / Dobrowolski, P. / Sinitsyna, I. / Phansalkar, A. / Longo, N. / Pasquali, M. / Mao, R. et al. | 2007
- 819
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Three successful pregnancies through dietary management of fructose‐1,6‐bisphosphatase deficiencyKrishnamurthy, V. / Eschrich, K. / Boney, A. / Sullivan, J. / McDonald, M. / Kishnani, P. S. / Koeberl, D. D. et al. | 2007
- 820
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Successful treatment of severe heart failure in an infant with Hurler syndromeHirth, A. / Berg, A. / Greve, G. et al. | 2007
- 821
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Enzyme replacement therapy in 12 patients with MPS I–H/S with homozygous p.Leu490Pro mutationArora, R. S. / Mercer, J. / Thornley, M. / Tylee, K. / Wraith, J. E. et al. | 2007
- 822
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Serum S100B levels in X‐linked adrenoleukodystrophy and Gaucher diseaseMichelakakis, H. / Kariyannis, C. / Moraitou, M. / Dimitriou, E. / Sarafidou, J. / Papassotiriou, I. et al. | 2007
- 823
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Intrauterine growth retardation and placental vacuolization as presenting features in a case of GM1 gangliosidosisBrunetti‐Pierri, Nicola / Mian, Asad / Luetchke, Rebecca / Graham, Brett H. et al. | 2007
- 824
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Effect of treatment on biclonal gammopathy associated with Gaucher diseaseDecaux, O. / Ruelland, A. / Grosbois, B. et al. | 2007
- 825
-
Parotid gland involvement, the presenting sign of high grade non‐Hodgkin lymphoma in two patients with Gaucher disease and sicca syndromeShvidel, L. / Sigler, E. / Shtalrid, M. / Feldberg, E. / Berrebi, A. et al. | 2007
- 826
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Treatment of Niemann–Pick disease type C in two children with miglustat: Initial responses and maintenance of effects over 1 yearChien, Y.‐H. / Lee, N.‐C. / Tsai, L.‐K. / Huang, A.‐C. / Peng, S.‐F. / Chen, S.‐J. / Hwu, W.‐L. et al. | 2007
- 827
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Cardiofaciocutaneous (CFC) syndrome associated with muscular coenzyme Q10 deficiencyAeby, A. / Sznajer, Y. / Cavé, H. / Rebuffat, E. / Van Coster, R. / Rigal, O. / Van Bogaert, P. et al. | 2007
- 828
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Effect of testosterone metabolites on ABC half‐transporter relative gene expression in X‐linked adrenoleukodystrophyPetroni, A. / Cappa, M. / Carissimi, R. / Blasevich, M. / Uziel, G. et al. | 2007
- 829
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Mevalonic aciduria: Report of two casesBretón Martínez, J. R. / Cánovas Martínez, A. / Casaña Pérez, S. / Escribá Alepuz, J. / Giménez Vázquez, F. et al. | 2007
- 830
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Bilateral renal cell carcinoma development in long‐term Fabry diseaseCassiman, D. / Claes, K. / Lerut, E. / Oyen, R. / Joniau, S. / Van Damme, B. / Jaeken, J. et al. | 2007
- 832
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Congenital adrenal hyperplasia: Diagnostic advancesTorresani, T. / Biason‐Lauber, Anna et al. | 2007
- 833
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The natural history of Niemann–Pick disease type C in the UKImrie, J. / Dasgupta, S. / Besley, G. T. N. / Harris, C. / Heptinstall, L. / Knight, S. / Vanier, M. T. / Fensom, A. H. / Ward, C. / Jacklin, E. et al. | 2007