Search Results - "Gradowska W"

N-acetylaspartylglutamate in Canavan disease: an adverse effector?

Authors: Burlina, A. P. Ferrari, V. Divry, P. et al.

Source: European Journal of Pediatrics. 1999, Vol. 158 Issue 5, p406-409. 4p.

Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.

Authors: Kölker S Valayannopoulos V Burlina AB et al.

Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2015 Nov; Vol. 38 (6), pp. 1157-8.

Publication Type: Published Erratum

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: PubMed not MEDLINE

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation.

Authors: Kölker S Garcia-Cazorla A Valayannopoulos V et al.

Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2015 Nov; Vol. 38 (6), pp. 1041-57. Date of Electronic Publication: 2015 Apr 15.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.

Authors: Kölker S Valayannopoulos V Burlina AB et al.

Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2015 Nov; Vol. 38 (6), pp. 1059-74. Date of Electronic Publication: 2015 Apr 15.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation.

Authors: Kölker S Cazorla AG Valayannopoulos V et al.

Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2015 Nov; Vol. 38 (6), pp. 1155-6.

Publication Type: Published Erratum

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: PubMed not MEDLINE

Urgent metabolic service improves survival in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency detected by symptomatic identification and pilot newborn screening.

Authors: Sykut-Cegielska J Gradowska W Piekutowska-Abramczuk D et al.

Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2011 Feb; Vol. 34 (1), pp. 185-95. Date of Electronic Publication: 2010 Nov 20.

Publication Type: Evaluation Study; Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

A comprehensive HADHA c.1528G>C frequency study reveals high prevalence of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in Poland.

Authors: Piekutowska-Abramczuk D Olsen RK Wierzba J et al.

Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2010 Dec; Vol. 33 Suppl 3, pp. S373-7. Date of Electronic Publication: 2010 Sep 03.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

Aminoacylase 1 deficiency associated with autistic behavior.

Authors: Tylki-Szymanska A Gradowska W Sommer A et al.

Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2010 Dec; Vol. 33 Suppl 3, pp. S211-4. Date of Electronic Publication: 2010 May 18.

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

Xanthine dehydrogenase deficiency with novel sequence variations presenting as rheumatoid arthritis in a 78-year-old patient.

Authors: Jurecka A Stiburkova B Krijt J et al.

Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2010 Dec; Vol. 33 Suppl 3, pp. S21-4. Date of Electronic Publication: 2010 Jan 14.

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

Evaluation of somatic development in adult patients with previously undiagnosed and/or untreated phenylketonuria.

Authors: Mazur A Jarochowicz S Sykut-Cegielska J et al.

Source: Medical principles and practice : international journal of the Kuwait University, Health Science Centre [Med Princ Pract] 2010; Vol. 19 (1), pp. 46-50. Date of Electronic Publication: 2009 Dec 09.

Publication Type: Journal Article

Journal Info: Publisher: Karger Country of Publication: Switzerland NLM ID: 8901334 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1423-0151 (Electronic) Linking ISSN: 10117571 NLM ISO Abbreviation: Med Princ Pract Subsets: MEDLINE

Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria.

Authors: Kranendijk M Struys EA Gibson KM et al.

Source: Human mutation [Hum Mutat] 2010 Mar; Vol. 31 (3), pp. 279-83.

Publication Type: Journal Article

Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency.

Authors: Jurecka A Zikanova M Tylki-Szymanska A et al.

Source: Molecular genetics and metabolism [Mol Genet Metab] 2008 Aug; Vol. 94 (4), pp. 435-442. Date of Electronic Publication: 2008 Jun 03.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE

Identification of 2-[2-nitro-4-(trifluoromethyl)benzoyl]- cyclohexane-1,3-dione metabolites in urine of patients suffering from tyrosinemia type I with the use of 1H and 19F NMR spectroscopy.

Authors: Szczeciński P Lamparska D Gryff-Keller A et al.

Source: Acta biochimica Polonica [Acta Biochim Pol] 2008; Vol. 55 (4), pp. 749-52. Date of Electronic Publication: 2008 Nov 28.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Frontiers Media S.A Country of Publication: Switzerland NLM ID: 14520300R Publication Model: Print-Electronic Cited Medium: Print ISSN: 0001-527X (Print) Linking ISSN: 0001527X NLM ISO Abbreviation: Acta Biochim Pol Subsets: MEDLINE

Investigation of a wide spectrum of inherited metabolic disorders by 13C NMR spectroscopy.

Authors: Bal D Kraska-Dziadecka A Gradowska W et al.

Source: Acta biochimica Polonica [Acta Biochim Pol] 2008; Vol. 55 (1), pp. 107-18. Date of Electronic Publication: 2008 Jan 23.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Frontiers Media S.A Country of Publication: Switzerland NLM ID: 14520300R Publication Model: Print-Electronic Cited Medium: Print ISSN: 0001-527X (Print) Linking ISSN: 0001527X NLM ISO Abbreviation: Acta Biochim Pol Subsets: MEDLINE

Dihydropyrimidine dehydrogenase deficiency presenting with psychomotor retardation in the first Polish patient.

Authors: Mazur A Figurski S Płoskoń A et al.

Source: Acta biochimica Polonica [Acta Biochim Pol] 2008; Vol. 55 (4), pp. 787-90. Date of Electronic Publication: 2008 Dec 16.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Frontiers Media S.A Country of Publication: Switzerland NLM ID: 14520300R Publication Model: Print-Electronic Cited Medium: Print ISSN: 0001-527X (Print) Linking ISSN: 0001527X NLM ISO Abbreviation: Acta Biochim Pol Subsets: MEDLINE

1H NMR spectra of methylcitric acid in urine.

Authors: Krawczyk H Gradowska W

Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2007 Apr; Vol. 30 (2), pp. 263. Date of Electronic Publication: 2007 Feb 14.

Publication Type: Evaluation Study; Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

Absolute configuration of N-acetylaspartate in urine from patients with Canavan disease.

Authors: Bal D Gryff-Keller A Gradowska W

Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2005; Vol. 28 (4), pp. 607-9.

Publication Type: Journal Article

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print Cited Medium: Print ISSN: 0141-8955 (Print) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

Trial of erythropoietin treatment in a boy with glutathione synthetase deficiency.

Authors: Sykut-Cegielska J Jurecka A Taybert J et al.

Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2005; Vol. 28 (6), pp. 1153-4.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print Cited Medium: Print ISSN: 0141-8955 (Print) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

Biochemical and clinical characteristics of creatine deficiency syndromes.

Authors: Sykut-Cegielska J Gradowska W Mercimek-Mahmutoglu S et al.

Source: Acta biochimica Polonica [Acta Biochim Pol] 2004; Vol. 51 (4), pp. 875-82.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Review

Journal Info: Publisher: Frontiers Media S.A Country of Publication: Switzerland NLM ID: 14520300R Publication Model: Print Cited Medium: Print ISSN: 0001-527X (Print) Linking ISSN: 0001527X NLM ISO Abbreviation: Acta Biochim Pol Subsets: MEDLINE

Characterisation of the 1H and 13C NMR spectra of N-acetylaspartylglutamate and its detection in urine from patients with Canavan disease.

Authors: Krawczyk H Gradowska W

Source: Journal of pharmaceutical and biomedical analysis [J Pharm Biomed Anal] 2003 Mar 10; Vol. 31 (3), pp. 455-63.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Elsevier Science Country of Publication: England NLM ID: 8309336 Publication Model: Print Cited Medium: Print ISSN: 0731-7085 (Print) Linking ISSN: 07317085 NLM ISO Abbreviation: J Pharm Biomed Anal Subsets: MEDLINE