165 related articles for article (PubMed ID: 36221165)
21. [Development of brain atrophy, therapy and therapy monitoring in glutaric aciduria type I (glutaryl-CoA dehydrogenase deficiency)].
Lawrenz-Wolf B; Herberg KP; Hoffmann GF; Hunneman DH; Lehnert W; Hanefeld F
Klin Padiatr; 1993; 205(1):23-9. PubMed ID: 8445849
[TBL] [Abstract][Full Text] [Related]
22. 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]
23. Mild phenotype of glutaric aciduria type 1 in polish patients - novel data from a group of 13 cases.
Pokora P; Jezela-Stanek A; Różdżyńska-Świątkowska A; Jurkiewicz E; Bogdańska A; Szymańska E; Rokicki D; Ciara E; Rydzanicz M; Stawiński P; Płoski R; Tylki-Szymańska A
Metab Brain Dis; 2019 Apr; 34(2):641-649. PubMed ID: 30570710
[TBL] [Abstract][Full Text] [Related]
24. Deletion of 2-aminoadipic semialdehyde synthase limits metabolite accumulation in cell and mouse models for glutaric aciduria type 1.
Leandro J; Dodatko T; DeVita RJ; Chen H; Stauffer B; Yu C; Houten SM
J Inherit Metab Dis; 2020 Nov; 43(6):1154-1164. PubMed ID: 32567100
[TBL] [Abstract][Full Text] [Related]
25. Acute renal proximal tubule alterations during induced metabolic crises in a mouse model of glutaric aciduria type 1.
Thies B; Meyer-Schwesinger C; Lamp J; Schweizer M; Koeller DM; Ullrich K; Braulke T; Mühlhausen C
Biochim Biophys Acta; 2013 Oct; 1832(10):1463-72. PubMed ID: 23623985
[TBL] [Abstract][Full Text] [Related]
26. Two inborn errors of metabolism in a newborn: glutaric aciduria type I combined with isobutyrylglycinuria.
Popek M; Walter M; Fernando M; Lindner M; Schwab KO; Sass JO
Clin Chim Acta; 2010 Dec; 411(23-24):2087-91. PubMed ID: 20836999
[TBL] [Abstract][Full Text] [Related]
27. Prenatal diagnosis of fetal glutaric aciduria type 1 with rare compound heterozygous mutations in GCDH gene.
Peng HH; Shaw SW; Huang KG
Taiwan J Obstet Gynecol; 2018 Feb; 57(1):137-140. PubMed ID: 29458885
[TBL] [Abstract][Full Text] [Related]
28. Brain MRI findings as an important diagnostic clue in glutaric aciduria type 1.
Nunes J; Loureiro S; Carvalho S; Pais RP; Alfaiate C; Faria A; Garcia P; Diogo L
Neuroradiol J; 2013 Apr; 26(2):155-61. PubMed ID: 23859237
[TBL] [Abstract][Full Text] [Related]
29. Impairment of GABAergic system contributes to epileptogenesis in glutaric acidemia type I.
Vendramin Pasquetti M; Meier L; Loureiro S; Ganzella M; Junges B; Barbieri Caus L; Umpierrez Amaral A; Koeller DM; Goodman S; Woontner M; Gomes de Souza DO; Wajner M; Calcagnotto ME
Epilepsia; 2017 Oct; 58(10):1771-1781. PubMed ID: 28762469
[TBL] [Abstract][Full Text] [Related]
30. [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]
31. Spectrum of mutations in Glutaryl-CoA dehydrogenase gene in glutaric aciduria type I--Study from South India.
Radha Rama Devi A; Ramesh VA; Nagarajaram HA; Satish SP; Jayanthi U; Lingappa L
Brain Dev; 2016 Jan; 38(1):54-60. PubMed ID: 26071121
[TBL] [Abstract][Full Text] [Related]
32. 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]
33. Impact of newborn screening and quality of therapy on the neurological outcome in glutaric aciduria type 1: a meta-analysis.
Boy N; Mengler K; Heringer-Seifert J; Hoffmann GF; Garbade SF; Kölker S
Genet Med; 2021 Jan; 23(1):13-21. PubMed ID: 32981931
[TBL] [Abstract][Full Text] [Related]
34. Clinical and mutational spectra of 23 Chinese patients with glutaric aciduria type 1.
Wang Q; Li X; Ding Y; Liu Y; Song J; Yang Y
Brain Dev; 2014 Oct; 36(9):813-22. PubMed ID: 24332224
[TBL] [Abstract][Full Text] [Related]
35. Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency.
Hoffmann GF; Athanassopoulos S; Burlina AB; Duran M; de Klerk JB; Lehnert W; Leonard JV; Monavari AA; Müller E; Muntau AC; Naughten ER; Plecko-Starting B; Superti-Furga A; Zschocke J; Christensen E
Neuropediatrics; 1996 Jun; 27(3):115-23. PubMed ID: 8837070
[TBL] [Abstract][Full Text] [Related]
36. Interaction of glutaric aciduria type 1-related glutaryl-CoA dehydrogenase with mitochondrial matrix proteins.
Schmiesing J; Schlüter H; Ullrich K; Braulke T; Mühlhausen C
PLoS One; 2014; 9(2):e87715. PubMed ID: 24498361
[TBL] [Abstract][Full Text] [Related]
37. Newborn screening: A disease-changing intervention for glutaric aciduria type 1.
Boy N; Mengler K; Thimm E; Schiergens KA; Marquardt T; Weinhold N; Marquardt I; Das AM; Freisinger P; Grünert SC; Vossbeck J; Steinfeld R; Baumgartner MR; Beblo S; Dieckmann A; Näke A; Lindner M; Heringer J; Hoffmann GF; Mühlhausen C; Maier EM; Ensenauer R; Garbade SF; Kölker S
Ann Neurol; 2018 May; 83(5):970-979. PubMed ID: 29665094
[TBL] [Abstract][Full Text] [Related]
38. A Korean patient with glutaric aciduria type 1 with a novel mutation in the glutaryl CoA dehydrogenase gene.
Kim HS; Yu HJ; Lee J; Park HD; Kim JH; Shin HJ; Jin DK; Lee M
Ann Clin Lab Sci; 2014; 44(2):213-6. PubMed ID: 24795062
[TBL] [Abstract][Full Text] [Related]
39. 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]
40.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Previous] [Next] [New Search]
