402 related articles for article (PubMed ID: 26847429)
21. 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]
22. 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]
23. Mechanistic effects of amino acids and glucose in a novel glutaric aciduria type 1 cell model.
Fu X; Gao H; Tian F; Gao J; Lou L; Liang Y; Ning Q; Luo X
PLoS One; 2014; 9(10):e110181. PubMed ID: 25333616
[TBL] [Abstract][Full Text] [Related]
24. [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]
25. 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]
26. Glutaric aciduria type 1: Genetic and phenotypic spectrum in 53 patients.
Gürbüz BB; Yılmaz DY; Coşkun T; Tokatlı A; Dursun A; Sivri HS
Eur J Med Genet; 2020 Nov; 63(11):104032. PubMed ID: 32777384
[TBL] [Abstract][Full Text] [Related]
27. Teaching neuroimages: infant with glutaric aciduria type 1 presenting with infantile spasms and hypsarrhythmia.
Young-Lin N; Shalev S; Glenn OA; Gardner M; Lee C; Wynshaw-Boris A; Gelfand AA
Neurology; 2013 Dec; 81(24):e182-3. PubMed ID: 24323445
[TBL] [Abstract][Full Text] [Related]
28. Elevated levels of BDNF and cathepsin-d as possible peripheral markers of neurodegeneration in plasma of patients with glutaric acidemia type I.
Guerreiro G; Diaz Jaques CE; Wajner M; Vargas CR
Int J Dev Neurosci; 2020 Feb; 80(1):42-49. PubMed ID: 31910296
[TBL] [Abstract][Full Text] [Related]
29. 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]
30. Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity.
Boy N; Heringer J; Brackmann R; Bodamer O; Seitz A; Kölker S; Harting I
Orphanet J Rare Dis; 2017 Apr; 12(1):77. PubMed ID: 28438223
[TBL] [Abstract][Full Text] [Related]
31. [Expert consensus for the diagnosis and treatment of glutaricacidemia type 1].
; ; ; Han L; Yang Y; Yang R; Chen R; Huang X
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Jan; 38(1):1-6. PubMed ID: 33423247
[TBL] [Abstract][Full Text] [Related]
32. Molecular determination of glutaric aciduria type I in individuals from southwest Iran.
Baradaran M; Galehdari H; Aminzadeh M; Azizi Malmiri R; Tangestani R; Karimi Z
Arch Iran Med; 2014 Sep; 17(9):629-32. PubMed ID: 25204480
[TBL] [Abstract][Full Text] [Related]
33. [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]
34. Clinical and molecular investigation in Chinese patients with glutaric aciduria type I.
Zhang Y; Li H; Ma R; Mei L; Wei X; Liang D; Wu L
Clin Chim Acta; 2016 Jan; 453():75-9. PubMed ID: 26656312
[TBL] [Abstract][Full Text] [Related]
35. Experiences during newborn screening for glutaric aciduria type 1: Diagnosis, treatment, genotype, phenotype, and outcomes.
Tsai FC; Lee HJ; Wang AG; Hsieh SC; Lu YH; Lee MC; Pai JS; Chu TH; Yang CF; Hsu TR; Lai CJ; Tsai MT; Ho PH; Lin MC; Cheng LY; Chuang YC; Niu DM
J Chin Med Assoc; 2017 Apr; 80(4):253-261. PubMed ID: 28302372
[TBL] [Abstract][Full Text] [Related]
36. Early neonatal Glutaric aciduria type I hidden by perinatal asphyxia: a case report.
Biasucci G; Morelli N; Natacci F; Mastrangelo M
Ital J Pediatr; 2018 Jan; 44(1):8. PubMed ID: 29335023
[TBL] [Abstract][Full Text] [Related]
37. Elevated glutaric acid levels in Dhtkd1-/Gcdh- double knockout mice challenge our current understanding of lysine metabolism.
Biagosch C; Ediga RD; Hensler SV; Faerberboeck M; Kuehn R; Wurst W; Meitinger T; Kölker S; Sauer S; Prokisch H
Biochim Biophys Acta Mol Basis Dis; 2017 Sep; 1863(9):2220-2228. PubMed ID: 28545977
[TBL] [Abstract][Full Text] [Related]
38. Malignant brain tumors in patients with glutaric aciduria type I.
Serrano Russi A; Donoghue S; Boneh A; Manara R; Burlina AB; Burlina AP
Mol Genet Metab; 2018 Nov; 125(3):276-280. PubMed ID: 30217722
[TBL] [Abstract][Full Text] [Related]
39. Complementary dietary treatment using lysine-free, arginine-fortified amino acid supplements in glutaric aciduria type I - A decade of experience.
Kölker S; Boy SP; Heringer J; Müller E; Maier EM; Ensenauer R; Mühlhausen C; Schlune A; Greenberg CR; Koeller DM; Hoffmann GF; Haege G; Burgard P
Mol Genet Metab; 2012 Sep; 107(1-2):72-80. PubMed ID: 22520952
[TBL] [Abstract][Full Text] [Related]
40. Clinico-Biochemical Spectrum of Pakistani Patients with Glutaric Aciduria Type 1 (GA1): Experience from a Specialised Biochemical Genetics Laboratory in Pakistan.
Bilal M; Jafri L; Majid H; Khan AH; Ahmed S
J Coll Physicians Surg Pak; 2024 Jun; 34(6):646-649. PubMed ID: 38840344
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]