185 related articles for article (PubMed ID: 33274439)
1. Impact of interventional and non-interventional variables on anthropometric long-term development in glutaric aciduria type 1: A national prospective multi-centre study.
Märtner EMC; Maier EM; Mengler K; Thimm E; Schiergens KA; Marquardt T; Santer R; 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-Seifert J; Lenz D; Hoffmann GF; Mühlhausen C; Ensenauer R; Garbade SF; Kölker S; Boy N
J Inherit Metab Dis; 2021 May; 44(3):629-638. PubMed ID: 33274439
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. 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]
5. 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]
6. The long-term treatment of a patient with type 1 diabetes mellitus and glutaric aciduria type 1: the effect of insulin.
Del Rizzo M; Galderisi A; Celato A; Furlan F; Giordano L; Cazzorla C; Fasan I; Moretti C; Zschocke J; Burlina AB
Eur J Pediatr; 2016 Aug; 175(8):1123-8. PubMed ID: 26847429
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9. [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]
10. [Progress of glutaric aciduria type I].
Gao JZ; Luo XP
Zhonghua Er Ke Za Zhi; 2012 Dec; 50(12):912-4. PubMed ID: 23324148
[No Abstract] [Full Text] [Related]
11. 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]
12. Unravelling the complex MRI pattern in glutaric aciduria type I using statistical models-a cohort study in 180 patients.
Garbade SF; Greenberg CR; Demirkol M; Gökçay G; Ribes A; Campistol J; Burlina AB; Burgard P; Kölker S
J Inherit Metab Dis; 2014 Sep; 37(5):763-73. PubMed ID: 24810368
[TBL] [Abstract][Full Text] [Related]
13. Low lysine diet in glutaric aciduria type I--effect on anthropometric and biochemical follow-up parameters.
Boy N; Haege G; Heringer J; Assmann B; Mühlhausen C; Ensenauer R; Maier EM; Lücke T; Hoffmann GF; Müller E; Burgard P; Kölker S
J Inherit Metab Dis; 2013 May; 36(3):525-33. PubMed ID: 22971958
[TBL] [Abstract][Full Text] [Related]
14. Occurrence of subdural hematomas in Dutch glutaric aciduria type 1 patients.
Vester ME; Visser G; Wijburg FA; van Spronsen FJ; Williams M; van Rijn RR
Eur J Pediatr; 2016 Jul; 175(7):1001-6. PubMed ID: 27246831
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Inherited Disorders of Lysine Metabolism: A Review.
Bouchereau J; Schiff M
J Nutr; 2020 Oct; 150(Suppl 1):2556S-2560S. PubMed ID: 33000154
[TBL] [Abstract][Full Text] [Related]
17. Subdural hematoma in glutaric aciduria type 1: High excreters are prone to incidental SDH despite newborn screening.
Boy N; Mohr A; Garbade SF; Freisinger P; Heringer-Seifert J; Seitz A; Kölker S; Harting I
J Inherit Metab Dis; 2021 Nov; 44(6):1343-1352. PubMed ID: 34515344
[TBL] [Abstract][Full Text] [Related]
18. Dietary practices in glutaric aciduria type 1 over 16 years.
Gokmen-Ozel H; MacDonald A; Daly A; Ashmore C; Preece MA; Hendriksz C; Vijay S; Chakrapani A
J Hum Nutr Diet; 2012 Dec; 25(6):514-9. PubMed ID: 22845646
[TBL] [Abstract][Full Text] [Related]
19. Clinical, biochemical, neuroradiological and molecular characterization of Egyptian patients with glutaric acidemia type 1.
Zayed H; El Khayat H; Tomoum H; Khalifa O; Siddiq E; Mohammad SA; Gamal R; Shi Z; Mosailhy A; Zaki OK
Metab Brain Dis; 2019 Aug; 34(4):1231-1241. PubMed ID: 31062211
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
