-
1
-
-
0036304967
-
Clinical approach to inherited metabolic disorders in neonates: An overview
-
DOI 10.1053/siny.2001.0083
-
Saudubray JM, Nassogne MC, de Lonlay P, Touati G,. Clinical approach to inherited metabolic disorders in neonates: An overview. Semin. Neonatol. 2002; 7: 3-15. (Pubitemid 34742215)
-
(2002)
Seminars in Neonatology
, vol.7
, Issue.1
, pp. 3-15
-
-
Saudubray, J.M.1
Nassogne, M.C.2
De Lonlay, P.3
Touati, G.4
-
2
-
-
67349267573
-
Enfermedades congénitas del metabolismo: Generalidades, grupos clínicos y algoritmos diagnõsticos
-
In: Sanjurjo P., Baldellou A. (eds). Ergõn, Madrid
-
Sanjurjo P, Aldámiz-Echevarría L, Ojembarrena E, Aquino L,. Enfermedades congénitas del metabolismo: Generalidades, grupos clínicos y algoritmos diagnõsticos. In:, Sanjurjo P, Baldellou A, (eds). Diagnõstico Y Tratamiento De Las Enfermedades Metabõlicas Hereditarias 2th. Ergõn, Madrid, 2006; 63-98.
-
(2006)
Diagnõstico y Tratamiento de Las Enfermedades Metabõlicas Hereditarias 2th
, pp. 63-98
-
-
Sanjurjo, P.1
Aldámiz-Echevarría, L.2
Ojembarrena, E.3
Aquino, L.4
-
3
-
-
29944433508
-
Diagnosis and early management of inborn errors of metabolism presenting around the time of birth
-
DOI 10.1080/08035250500349413
-
Leonard JV, Morris AA,. Diagnosis and early management of inborn errors of metabolism presenting around the time of birth. Acta Paediatr. 2006; 95: 6-14. (Pubitemid 43041722)
-
(2006)
Acta Paediatrica, International Journal of Paediatrics
, vol.95
, Issue.1
, pp. 6-14
-
-
Leonard, J.V.1
Morris, A.A.M.2
-
6
-
-
0037685217
-
Screening newborns for inborn errors of metabolism by tandem mass spectrometry
-
DOI 10.1056/NEJMoa025225
-
Wilcken B, Wiley V, Hammond J, Carpenter K,. Screening newborns for inborn errors of metabolism by tandem mass spectrometry. N. Engl. J. Med. 2003; 348: 2304-12. (Pubitemid 36638104)
-
(2003)
New England Journal of Medicine
, vol.348
, Issue.23
, pp. 2304-2312
-
-
Wilcken, B.1
Wiley, V.2
Hammond, J.3
Carpenter, K.4
-
7
-
-
34548515288
-
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: A four-year report
-
DOI 10.1007/s10545-007-0543-9
-
Han LS, Ye J, Qiu WJ, Gao XL, Wang Y, Gu XF,. Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: A four-year report. J. Inherit. Metab. Dis. 2007; 30: 507-14. (Pubitemid 47377045)
-
(2007)
Journal of Inherited Metabolic Disease
, vol.30
, Issue.4
, pp. 507-514
-
-
Han, L.S.1
Ye, J.2
Qiu, W.J.3
Gao, X.L.4
Wang, Y.5
Gu, X.F.6
-
8
-
-
33947380671
-
Impact of inborn errors of metabolism on admission and mortality in a pediatric intensive care unit
-
DOI 10.1007/s00431-006-0265-2
-
Jouvet P, Touati G, Lesage F, et al. Impact of inborn errors of metabolism on admission and mortality in a pediatric intensive care unit. Eur. J. Pediatr. 2007; 166: 461-5. (Pubitemid 46450486)
-
(2007)
European Journal of Pediatrics
, vol.166
, Issue.5
, pp. 461-465
-
-
Jouvet, P.1
Touati, G.2
Lesage, F.3
Dupic, L.4
Tucci, M.5
Saudubray, J.M.6
Hubert, P.7
-
9
-
-
34548301773
-
Clinical characteristics of neonates with inborn errors of metabolism detected by Tandem MS analysis in Oman
-
DOI 10.1016/j.braindev.2007.01.004, PII S0387760407000289
-
Joshi SN, Venugopalan P,. Clinical characteristics of neonates with inborn errors of metabolism detected by Tandem MS analysis in Oman. Brain Dev. 2007; 29: 543-6. (Pubitemid 47337051)
-
(2007)
Brain and Development
, vol.29
, Issue.9
, pp. 543-546
-
-
Joshi, S.N.1
Venugopalan, P.2
-
11
-
-
33645668108
-
The tandem mass spectrometry newborn screening experience in North Carolina: 1997-2005
-
Frazier DM, Millington DS, McCandless SE, et al. The tandem mass spectrometry newborn screening experience in North Carolina: 1997-2005. J. Inherit. Metab. Dis. 2006; 29: 76-85.
-
(2006)
J. Inherit. Metab. Dis.
, vol.29
, pp. 76-85
-
-
Frazier, D.M.1
Millington, D.S.2
McCandless, S.E.3
-
12
-
-
0346059338
-
Arguments for early screening: A clinician's perspective
-
Walter JH,. Arguments for early screening: A clinician's perspective. Eur. J. Pediatr. 2003; 162: S2-4. (Pubitemid 38064734)
-
(2003)
European Journal of Pediatrics, Supplement
, vol.162
, Issue.1
-
-
Walter, J.H.1
-
13
-
-
34347386729
-
Aplicación de la espectrometría de masas en Tándem al análisis de aminoácidos, acilcarnitinas, acilglicinas y ácidos orgánicos en muestras de orina en papel
-
Rebollido M, Cocho JA, Castiñeiras DE, Bõveda MD, Fraga JM,. Aplicaciõn de la Espectrometría de masas en tandem al análisis de aminoácidos, acilcarnitinas, acilglicinas y ácidos orgánicos en muestras de orina en papel. Quím Clin. 2006; 25: 64-74. (Pubitemid 352770688)
-
(2006)
Quimica Clinica
, vol.25
, Issue.2
, pp. 64-74
-
-
Rebollido, M.1
Cocho, J.A.2
Castineiras, D.E.3
Boveda, M.D.4
Fraga, J.M.5
-
14
-
-
34548855112
-
High-volume continuous venovenous eofiltracion as an effective therapy for acute management of inborn errors of metabolism in young children
-
Lai YC, Huang HP, Tsai IJ, Tsau YK,. High-volume continuous venovenous eofiltracion as an effective therapy for acute management of inborn errors of metabolism in young children. Blood Purif. 2007; 25: 303-8.
-
(2007)
Blood Purif.
, vol.25
, pp. 303-308
-
-
Lai, Y.C.1
Huang, H.P.2
Tsai, I.J.3
Tsau, Y.K.4
-
16
-
-
0036220093
-
Inborn errors of metabolism in the Italian pediatric population: A national retrospective survey
-
DOI 10.1067/mpd.2002.122394
-
Dionisi-Vici C, Rizzo C, Burlina AB, et al. Inborn errors of metabolism in the Italian pediatric population: A national retrospective survey. J. Pediatr. 2002; 140: 321-7. (Pubitemid 34289709)
-
(2002)
Journal of Pediatrics
, vol.140
, Issue.3
, pp. 321-327
-
-
Dionisi-Vici, C.1
Rizzo, C.2
Burlina, A.B.3
Caruso, U.4
Sabetta, G.5
Uziel, G.6
Abeni, D.7
-
17
-
-
0346059335
-
Long-term outcome of patients with urea cycle disorders and the question of neonatal screening
-
Bachmann C,. Long-term outcome of patients with urea cycle disorders and the question of neonatal screening. Eur. J. Pediatr. 2003; 162: S29-33. (Pubitemid 38064741)
-
(2003)
European Journal of Pediatrics, Supplement
, vol.162
, Issue.1
-
-
Bachmann, C.1
-
18
-
-
33644827373
-
Impact of longitudinal plasma leucine levels on the intellectual outcome in patients with classic MSUD
-
Hoffmann B, Helbing C, Schadewaldt P, Wendel U,. Impact of longitudinal plasma leucine levels on the intellectual outcome in patients with classic MSUD. Pediatr. Res. 2006; 59: 17-20.
-
(2006)
Pediatr. Res.
, vol.59
, pp. 17-20
-
-
Hoffmann, B.1
Helbing, C.2
Schadewaldt, P.3
Wendel, U.4
-
19
-
-
67349135238
-
Pilot use of the early motor repertoire in infants with inborn errors of metabolism: Outcomes in early and middle childhood
-
Bruggink JL, Van Spronsen FJ, Wijnberg-Williams BJ, Bos AF,. Pilot use of the early motor repertoire in infants with inborn errors of metabolism: Outcomes in early and middle childhood. Early Hum. Dev. 2009; 85: 461-5.
-
(2009)
Early Hum. Dev.
, vol.85
, pp. 461-465
-
-
Bruggink, J.L.1
Van Spronsen, F.J.2
Wijnberg-Williams, B.J.3
Bos, A.F.4
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