Recommendations and management of type i hereditary or hepatorenal tyrosinemia;Recomendaciones y manejo de la tirosinemia hereditaria tipo i o tirosinemia hepatorrenal

Anales de Pediatria

Volumn 73, Issue 5, 2010, Pages

  Couce, M L ^a   Aldamiz Echevarria L ^b   Baldellou, A ^c   Blasco, J ^d   Bueno, M A ^e   Dalmau, J ^f   De La Vega, A ^g   Del Toro, M ^h   Diaz C ^g   Lama, R ^g   Leao, E ⁱ   Marrero, M ^j   Navas, V M ^d   Pintos, G ^k  

^a University Hospital of Santiago de Compostela   (Spain)

^b HOSPITAL DE CRUCES   (Spain)

^c UNIVERSITY OF ZARAGOZA   (Spain)

^d HOSPITAL MATERNO INFANTIL   (Spain)

^e HOSPITAL UNIVERSITARIO VIRGEN DEL ROCÍO   (Spain)

^f HOSPITAL INFANTIL LA FE   (Spain)

^g HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

^h HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

ⁱ HOSPITAL DE SÃO JOÃO   (Portugal)

^j HOSPITAL NUESTRA SEÑORA DE SONSOLES   (Spain)

^k HOSPITAL UNIVERSITARI GERMANS TRIAS I PUJOL   (Spain)

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Author keywords

Acute liver failure; Nitisinone; Tyrosinemia

Indexed keywords

NITISINONE;

CLINICAL PROTOCOL; DIET RESTRICTION; DIFFERENTIAL DIAGNOSIS; ECHOCARDIOGRAPHY; HEPATORENAL TYROSINEMIA TYPE I; HUMAN; HYPERINSULINEMIA; HYPOGLYCEMIA; INTERVENTION STUDY; KIDNEY DISEASE; LIVER CELL CARCINOMA; LIVER TRANSPLANTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PEDIATRICIAN; PRACTICE GUIDELINE; PROGNOSIS; SHORT SURVEY; SYMPTOM; TREATMENT INDICATION; TYROSINEMIA;

EID: 78049452264     PISSN: 16954033     EISSN: 16959531     Source Type: Journal    
DOI: 10.1016/j.anpedi.2010.03.005     Document Type: Article

References (14)

1. C. Daz Fernndez, A. De la Vega Bueno, and P.P. Jara Vega Tirosinemias P. Sanjurjo, A. Baldellou, Diagnstico y Tratamiento de las Enfermedades Metablicas Hereditarias 3 ed 2010 Ergn Madrid 449 464
2. C. Prez-Cerd, M. Del Toro, C. Daz M, and P. Jara Tirosinemia hereditaria tipo I P. Sanjurjo, M.L. Couce, P. Pintos, A. Ribes, B. Merinero, Protocolos de Diagnstico y Tratamiento de los Errores Congnitos del Metabolismo 2007 Enar S.A Madrid 179 196
3. P.A. Russo, G.A. Mitchell, and R.M. Tanguay Tyrosinemia: a review Pediatr Dev Pathol 4 2001 212 221
4. J. Sander, N. Janzen, M. Meter, S. Sander, U. Steuerwald, and U. Holtkamp Newborn screening for hepatorenal tyrosinemia: Tandem mass spectrometric quantification of succinylacetone Clin Chem 52 2006 482 487
5. G. La Marca, S. Malvagia, E. Pasquini, M. Innocenti, M.R. Fernandez, and M.A. Donati The inclusion of succinylacetone as marker for tyrosinemia type I in expanded newborn screening programs Rapid Commun Mass Spectrom 22 2008 812 818
6. O.Y. Al-Dirbashi, M.S. Rashed, H.J. Brink, C. Jakobs, N. Filimban, and L.Y. Al-Ahaidib Determination of succinyl acetone in dried blood spots and liquid urine as a dansylhydrazone by liquid chromatography tandem mass spectrometry J Chromatogr B Analyt Technol Biomed Life Sci 831 2006 274 280
7. PJ McKiernan Nitisinone in the treatment of hereditary tyrosinemia type 1 Drugs 66 2006 743 750
8. S. Santra, and U. Baumann Experiencia com nitisinona para el tratamiento farmacolgico de la tirosinemia hereditaria tipo 1 Expert Opin Pharmacother 9 2008 1229 1236
9. H. El-Karaksy, M. Rashed, R. El-Sayed, M. El-Raziky, N. El-Koofy, and M. El-Hawary NTBC therapy for tyrosinemia type 1: how much is enough? Eur J Pediatr 2009 10.1007/s00431-009-1090-1
10. M. Ruiz, F. Snchez-Valverde, J. Dalmau, and L. Gmez Tratamiento nutricional de los errores innatos del metabolismo 2 ed 2007 Drug Farma Madrid p. 111313
11. C.J. Koelink, P. van Hasselt, A. van der Ploeg, M.M. van den Heuvel-Eibrink, F.A. Wijburg, and C.M. Bijleveld Tyrosinemia type I treated by NTBC: how does AFP predict liver cancer? Mol Genet Metab 89 2006 10 15
12. C. Arikan, M. Kilic, D. Nart, F. Ozgenc, T. Ozkan, and Y. Tokat Hepatocellular carcinoma in children and effect of living-donor liver transplantation on outcome Pediatr Transplant 10 2006 42 47
13. M. Ashorn, S. Pitknen, M.K. Salo, and M. Heikinheimo Current strategies for the Treatment of Hereditary Tyrosinemia Type I Paediatr Drugs 8 2006 47 54
14. A. Masurel-Paulet, J. Poggi-Bach, M.O. Rolland, O. Bernard, N. Guffon, and D. Dobbelare NTBC treatment in tyrosinaemia type I: Long-term outcome in French patients J Inherit Metab Dis 31 2008 81 87