166 related articles for article (PubMed ID: 17642054)
1. [Glutaric aciduria type I with a low-excretion biochemical phenotype associated to a new mutation].
Madruga-Garrido M; Garcia-Villoria J; Ruiz-Del Portal L; Delgado-Pecellin C; Garcia-Valdecasas MS; Blanco-Martinez B; Perez-Perez M; Ribes A; Campistol J; Rufo-Campos M
Rev Neurol; 2007 Jul 16-31; 45(2):127-8. PubMed ID: 17642054
[No Abstract] [Full Text] [Related]
2. [Glutaric aciduria type I: an organic acidemia without acidosis with severe movement disorders].
Prats Viñas J
Neurologia; 2001 Oct; 16(8):337-41. PubMed ID: 11738010
[No Abstract] [Full Text] [Related]
3. [Glutaric aciduria type I. Clinical, biochemical and molecular findings in six patients in Venezuela].
Mahfoud A; Domínguez CL; Rizzo C; García-Villoria J; Navarro-Sastre A; Ribes A
Rev Neurol; 2007 May 16-31; 44(10):610-5. PubMed ID: 17523120
[TBL] [Abstract][Full Text] [Related]
4. 3-Methylglutaconic aciduria type I causes leukoencephalopathy of adult onset.
Eriguchi M; Mizuta H; Kurohara K; Kosugi M; Yakushiji Y; Okada R; Yukitake M; Hasegawa Y; Yamaguchi S; Kuroda Y
Neurology; 2006 Nov; 67(10):1895-6. PubMed ID: 17130438
[No Abstract] [Full Text] [Related]
5. New insights for glutaric aciduria type I.
Zinnanti WJ; Lazovic J; Wolpert EB; Antonetti DA; Smith MB; Connor JR; Woontner M; Goodman SI; Cheng KC
Brain; 2006 Aug; 129(Pt 8):e55. PubMed ID: 16870880
[No Abstract] [Full Text] [Related]
6. Glutaric aciduria type 1: clinical, biochemical and molecular findings in patients from Israel.
Korman SH; Jakobs C; Darmin PS; Gutman A; van der Knaap MS; Ben-Neriah Z; Dweikat I; Wexler ID; Salomons GS
Eur J Paediatr Neurol; 2007 Mar; 11(2):81-9. PubMed ID: 17188916
[TBL] [Abstract][Full Text] [Related]
7. Identification of novel L2HGDH gene mutations and update of the pathological spectrum.
Vilarinho L; Tafulo S; Sibilio M; Kok F; Fontana F; Diogo L; Venâncio M; Ferreira M; Nogueira C; Valongo C; Parenti G; Amorim A; Azevedo L
J Hum Genet; 2010 Jan; 55(1):55-8. PubMed ID: 19911013
[TBL] [Abstract][Full Text] [Related]
8. Glutaric aciduria type 1: a clinician's view of progress.
Strauss KA
Brain; 2005 Apr; 128(Pt 4):697-9. PubMed ID: 15788552
[No Abstract] [Full Text] [Related]
9. The urinary excretion of glutarylcarnitine is an informative tool in the biochemical diagnosis of glutaric acidemia type I.
Tortorelli S; Hahn SH; Cowan TM; Brewster TG; Rinaldo P; Matern D
Mol Genet Metab; 2005 Feb; 84(2):137-43. PubMed ID: 15670719
[TBL] [Abstract][Full Text] [Related]
10. [Type 1 glutaric aciduria: clinical and therapeutic implications].
Jiménez Caballero PE; Marsal Alonso C
Neurologia; 2007 Jun; 22(5):329-32. PubMed ID: 17508309
[TBL] [Abstract][Full Text] [Related]
11. Magnetic resonance imaging findings of adult-onset glutaric aciduria type I.
Sonmez G; Mutlu H; Ozturk E; Sildiroglu HO; Keskin AT; Basekim CC; Kizilkaya E
Acta Radiol; 2007 Jun; 48(5):557-9. PubMed ID: 17520433
[TBL] [Abstract][Full Text] [Related]
12. Prenatal cerebral ultrasound and MRI findings in glutaric aciduria Type 1: a de novo case.
Mellerio C; Marignier S; Roth P; Gaucherand P; des Portes V; Pracros JP; Guibaud L
Ultrasound Obstet Gynecol; 2008 Jun; 31(6):712-4. PubMed ID: 18470866
[No Abstract] [Full Text] [Related]
13. Facial anomalies in D-2-hydroxyglutaric aciduria.
Amiel J; de Lonlay P; Francannet C; Picard A; Bruel H; Rabier D; Le Merrer M; Verhoeven N; Jakobs C; Lyonnet S; Munnich A
Am J Med Genet; 1999 Sep; 86(2):124-9. PubMed ID: 10449646
[TBL] [Abstract][Full Text] [Related]
14. Lysine intake and neurotoxicity in glutaric aciduria type I: towards a rationale for therapy?
Kölker S; Sauer SW; Okun JG; Hoffmann GF; Koeller DM
Brain; 2006 Aug; 129(Pt 8):e54. PubMed ID: 16870879
[No Abstract] [Full Text] [Related]
15. [Glutaric aciduria type I: a report of 2 cases].
Liu Q; Chen YP
Zhongguo Dang Dai Er Ke Za Zhi; 2014 Jan; 16(1):87-90. PubMed ID: 24461187
[No Abstract] [Full Text] [Related]
16. Acrodermatitis acidemica secondary to malnutrition in glutaric aciduria type I.
Niiyama S; Koelker S; Degen I; Hoffmann GF; Happle R; Hoffmann R
Eur J Dermatol; 2001; 11(3):244-6. PubMed ID: 11358733
[TBL] [Abstract][Full Text] [Related]
17. [Myopathy with lipid accumulation and type-II glutaric aciduria].
Tomelleri G; Burlina A; Deotto L; Orrico D; Tonin P; Rizzuto N
Minerva Pediatr; 1991 Mar; 43(3):105. PubMed ID: 1870502
[No Abstract] [Full Text] [Related]
18. Glutaric aciduria type I associated with learning disability.
Patil N; Shinde S; Karande S; Kulkarni M
Indian J Pediatr; 2004 Oct; 71(10):948. PubMed ID: 15531849
[TBL] [Abstract][Full Text] [Related]
19. [L-2-hydroxyglutaric aciduria].
Terada N
Ryoikibetsu Shokogun Shirizu; 1998; (18 Pt 1):392-4. PubMed ID: 9590079
[No Abstract] [Full Text] [Related]
20. 3-methylglutaconic aciduria type I in a boy with fever-associated seizures.
Illsinger S; Lücke T; Zschocke J; Gibson KM; Das AM
Pediatr Neurol; 2004 Mar; 30(3):213-5. PubMed ID: 15033206
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
