383 related articles for article (PubMed ID: 29335813)
1. Organic acidurias in adults: late complications and management.
Tuncel AT; Boy N; Morath MA; Hörster F; Mütze U; Kölker S
J Inherit Metab Dis; 2018 Sep; 41(5):765-776. PubMed ID: 29335813
[TBL] [Abstract][Full Text] [Related]
2. 'Classical' organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: long-term outcome and effects of expanded newborn screening using tandem mass spectrometry.
Dionisi-Vici C; Deodato F; Röschinger W; Rhead W; Wilcken B
J Inherit Metab Dis; 2006; 29(2-3):383-9. PubMed ID: 16763906
[TBL] [Abstract][Full Text] [Related]
3. Impact of age at onset and newborn screening on outcome in organic acidurias.
Heringer J; Valayannopoulos V; Lund AM; Wijburg FA; Freisinger P; Barić I; Baumgartner MR; Burgard P; Burlina AB; Chapman KA; I Saladelafont EC; Karall D; Mühlhausen C; Riches V; Schiff M; Sykut-Cegielska J; Walter JH; Zeman J; Chabrol B; Kölker S;
J Inherit Metab Dis; 2016 May; 39(3):341-353. PubMed ID: 26689403
[TBL] [Abstract][Full Text] [Related]
4. Diagnosis and management of glutaric aciduria type I--revised recommendations.
Kölker S; Christensen E; Leonard JV; Greenberg CR; Boneh A; Burlina AB; Burlina AP; Dixon M; Duran M; García Cazorla A; Goodman SI; Koeller DM; Kyllerman M; Mühlhausen C; Müller E; Okun JG; Wilcken B; Hoffmann GF; Burgard P
J Inherit Metab Dis; 2011 Jun; 34(3):677-94. PubMed ID: 21431622
[TBL] [Abstract][Full Text] [Related]
5. Organic acidurias: Major gaps, new challenges, and a yet unfulfilled promise.
Dimitrov B; Molema F; Williams M; Schmiesing J; Mühlhausen C; Baumgartner MR; Schumann A; Kölker S
J Inherit Metab Dis; 2021 Jan; 44(1):9-21. PubMed ID: 32412122
[TBL] [Abstract][Full Text] [Related]
6. Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision.
Boy N; Mühlhausen C; Maier EM; Heringer J; Assmann B; Burgard P; Dixon M; Fleissner S; Greenberg CR; Harting I; Hoffmann GF; Karall D; Koeller DM; Krawinkel MB; Okun JG; Opladen T; Posset R; Sahm K; Zschocke J; Kölker S;
J Inherit Metab Dis; 2017 Jan; 40(1):75-101. PubMed ID: 27853989
[TBL] [Abstract][Full Text] [Related]
7. [Abnormal findings during newborn period of 160 patients with early-onset methylmalonic aciduria].
Liu YP; Ma YY; Wu TF; Wang Q; Li XY; Ding Y; Song JQ; Huang Y; Yang YL
Zhonghua Er Ke Za Zhi; 2012 Jun; 50(6):410-4. PubMed ID: 22931934
[TBL] [Abstract][Full Text] [Related]
8. Neonatal screening for glutaric aciduria type I: strategies to proceed.
Lindner M; Ho S; Fang-Hoffmann J; Hoffmann GF; Kölker S
J Inherit Metab Dis; 2006; 29(2-3):378-82. PubMed ID: 16763905
[TBL] [Abstract][Full Text] [Related]
9. Toxic synergism between quinolinic acid and organic acids accumulating in glutaric acidemia type I and in disorders of propionate metabolism in rat brain synaptosomes: Relevance for metabolic acidemias.
Colín-González AL; Paz-Loyola AL; Serratos I; Seminotti B; Ribeiro CA; Leipnitz G; Souza DO; Wajner M; Santamaría A
Neuroscience; 2015 Nov; 308():64-74. PubMed ID: 26343296
[TBL] [Abstract][Full Text] [Related]
10. [Clinical and laboratory studies on 28 patients with glutaric aciduria type 1].
Wang Q; Ding Y; Liu Y; Li X; Wu T; Song J; Wang Y; Yang Y
Zhonghua Er Ke Za Zhi; 2014 Jun; 52(6):415-9. PubMed ID: 25190159
[TBL] [Abstract][Full Text] [Related]
11. The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.
Kölker S; Valayannopoulos V; Burlina AB; Sykut-Cegielska J; Wijburg FA; Teles EL; Zeman J; Dionisi-Vici C; Barić I; Karall D; Arnoux JB; Avram P; Baumgartner MR; Blasco-Alonso J; Boy SP; Rasmussen MB; Burgard P; Chabrol B; Chakrapani A; Chapman K; Cortès I Saladelafont E; Couce ML; de Meirleir L; Dobbelaere D; Furlan F; Gleich F; González MJ; Gradowska W; Grünewald S; Honzik T; Hörster F; Ioannou H; Jalan A; Häberle J; Haege G; Langereis E; de Lonlay P; Martinelli D; Matsumoto S; Mühlhausen C; Murphy E; de Baulny HO; Ortez C; Pedrón CC; Pintos-Morell G; Pena-Quintana L; Ramadža DP; Rodrigues E; Scholl-Bürgi S; Sokal E; Summar ML; Thompson N; Vara R; Pinera IV; Walter JH; Williams M; Lund AM; Garcia-Cazorla A
J Inherit Metab Dis; 2015 Nov; 38(6):1059-74. PubMed ID: 25875216
[TBL] [Abstract][Full Text] [Related]
12. Therapeutic modulation of cerebral L-lysine metabolism in a mouse model for glutaric aciduria type I.
Sauer SW; Opp S; Hoffmann GF; Koeller DM; Okun JG; Kölker S
Brain; 2011 Jan; 134(Pt 1):157-70. PubMed ID: 20923787
[TBL] [Abstract][Full Text] [Related]
13. Glutaric aciduria type 1--importance of early diagnosis and treatment.
Afroze B; Yunus ZM
J Pak Med Assoc; 2014 May; 64(5):593-5. PubMed ID: 25272554
[TBL] [Abstract][Full Text] [Related]
14. [Complex heterogeneity phenotypes and genotypes of glutaric aciduria type 1].
Wang Q; Yang YL
Zhongguo Dang Dai Er Ke Za Zhi; 2016 May; 18(5):460-5. PubMed ID: 27165598
[TBL] [Abstract][Full Text] [Related]
15. Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision.
Boy N; Mühlhausen C; Maier EM; Ballhausen D; Baumgartner MR; Beblo S; Burgard P; Chapman KA; Dobbelaere D; Heringer-Seifert J; Fleissner S; Grohmann-Held K; Hahn G; Harting I; Hoffmann GF; Jochum F; Karall D; Konstantopoulous V; Krawinkel MB; Lindner M; Märtner EMC; Nuoffer JM; Okun JG; Plecko B; Posset R; Sahm K; Scholl-Bürgi S; Thimm E; Walter M; Williams M; Vom Dahl S; Ziagaki A; Zschocke J; Kölker S
J Inherit Metab Dis; 2023 May; 46(3):482-519. PubMed ID: 36221165
[TBL] [Abstract][Full Text] [Related]
16. The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study.
Märtner EMC; Thimm E; Guder P; Schiergens KA; Rutsch F; Roloff S; Marquardt I; Das AM; Freisinger P; Grünert SC; Krämer J; Baumgartner MR; Beblo S; Haase C; Dieckmann A; Lindner M; Näke A; Hoffmann GF; Mühlhausen C; Walter M; Garbade SF; Maier EM; Kölker S; Boy N
Sci Rep; 2021 Sep; 11(1):19300. PubMed ID: 34588557
[TBL] [Abstract][Full Text] [Related]
17. Urinary excretion of l-carnitine and acylcarnitines by patients with disorders of organic acid metabolism: evidence for secondary insufficiency of l-carnitine.
Chalmers RA; Roe CR; Stacey TE; Hoppel CL
Pediatr Res; 1984 Dec; 18(12):1325-8. PubMed ID: 6441143
[TBL] [Abstract][Full Text] [Related]
18. Is Expanded Newborn Screening Adequate to Detect Indian Biochemical Low Excretor Phenotype Patients of Glutaric Aciduria Type I?
Shaik M; T P KV; Kamate M; A B V
Indian J Pediatr; 2019 Nov; 86(11):995-1001. PubMed ID: 31302874
[TBL] [Abstract][Full Text] [Related]
19. Selective screening for inborn errors of metabolism by tandem mass spectrometry at Sohag University Hospital, Egypt.
Magdy RM; Abd-Elkhalek HS; Bakheet MA; Mohamed MM
Arch Pediatr; 2022 Jan; 29(1):36-43. PubMed ID: 34848132
[TBL] [Abstract][Full Text] [Related]
20. Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I).
Kölker S; Christensen E; Leonard JV; Greenberg CR; Burlina AB; Burlina AP; Dixon M; Duran M; Goodman SI; Koeller DM; Müller E; Naughten ER; Neumaier-Probst E; Okun JG; Kyllerman M; Surtees RA; Wilcken B; Hoffmann GF; Burgard P
J Inherit Metab Dis; 2007 Feb; 30(1):5-22. PubMed ID: 17203377
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
