-
1
-
-
80355132058
-
New frontiers in neuroimaging applications to inborn errors of metabolism
-
J
-
Prust MJ, Gropman AL, Hauser N. New frontiers in neuroimaging applications to inborn errors of metabolism[J]. Mol Genet Metab, 2011, 104(3):195-205.
-
(2011)
Mol Genet Metab
, vol.104
, Issue.3
, pp. 195-205
-
-
Prust, M.J.1
Gropman, A.L.2
Hauser, N.3
-
2
-
-
84863647947
-
-
Chinese source
-
-
-
-
3
-
-
84863662675
-
-
Chinese source
-
-
-
-
4
-
-
84863662673
-
-
Chinese source
-
-
-
-
5
-
-
41849141911
-
Selective screening for inborn errors of metabolism and secondary methylmalonic aciduria in pregnancy at high risk district of neural tube defects: A human metabolome study by GC-MS in China
-
J
-
Song YZ, Li BX, Hao H, Xin RL, Zhang T, Zhang CH, et al. Selective screening for inborn errors of metabolism and secondary methylmalonic aciduria in pregnancy at high risk district of neural tube defects: a human metabolome study by GC-MS in China[J]. Clin Biochem, 2008, 41(7-8):616-620.
-
(2008)
Clin Biochem
, vol.41
, Issue.7-8
, pp. 616-620
-
-
Song, Y.Z.1
Li, B.X.2
Hao, H.3
Xin, R.L.4
Zhang, T.5
Zhang, C.H.6
-
6
-
-
84863647946
-
-
Chinese source
-
-
-
-
7
-
-
20044380339
-
Screening of newborns and high-risk group of children for inborn metabolic disorders using tandem mass spectrometry in South Korea: A three-year report
-
DOI 10.1016/j.cccn.2004.11.032
-
Yoon HR, Lee KR, Kang S, Lee DH, Yoo HW, Min WK, et al. Screening of newborns and high-risk group of children for inborn metabolic disorders using tandem mass spectrometry in South Korea: a three-year report[J]. Clin Chim Acta, 2005, 354(1-2):167-180. (Pubitemid 40320688)
-
(2005)
Clinica Chimica Acta
, vol.354
, Issue.1-2
, pp. 167-180
-
-
Yoon, H.-R.1
Lee, K.R.2
Kang, S.3
Lee, D.H.4
Yoo, H.-W.5
Min, W.-K.6
Cho, D.H.7
Shin, S.M.8
Kim, J.9
Song, J.10
Yoon, H.J.11
Seo, S.12
Hahn, S.H.13
-
8
-
-
79851510629
-
Research challenges in central nervous system manifestations of inborn errors of metabolism
-
J
-
Dickson PI, Pariser AR, Groft SC, Ishihara RW, McNeil DE, Tagle D, et al. Research challenges in central nervous system manifestations of inborn errors of metabolism[J]. Mol Genet Metab, 2011, 102(3):326-338.
-
(2011)
Mol Genet Metab
, vol.102
, Issue.3
, pp. 326-338
-
-
Dickson, P.I.1
Pariser, A.R.2
Groft, S.C.3
Ishihara, R.W.4
McNeil, D.E.5
Tagle, D.6
-
9
-
-
51849109332
-
A 25-year longitudinal analysis of treatment efficacy in inborn errors of metabolism
-
J
-
Campeau PM, Scriver CR, Mitchell JJ. A 25-year longitudinal analysis of treatment efficacy in inborn errors of metabolism[J]. Mol Genet Metab, 2008, 95(9):11-16.
-
(2008)
Mol Genet Metab
, vol.95
, Issue.9
, pp. 11-16
-
-
Campeau, P.M.1
Scriver, C.R.2
Mitchell, J.J.3
-
10
-
-
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[J]. Brain Dev, 2007, 29(9):543-546. (Pubitemid 47337051)
-
(2007)
Brain and Development
, vol.29
, Issue.9
, pp. 543-546
-
-
Joshi, S.N.1
Venugopalan, P.2
-
11
-
-
80255136128
-
Methylmalonic Acidemia in Mainland China
-
J
-
Tu WJ. Methylmalonic Acidemia in Mainland China[J]. Ann Nutr Metab, 2011, 58(4):281.
-
(2011)
Ann Nutr Metab
, vol.58
, Issue.4
, pp. 281
-
-
Tu, W.J.1
-
12
-
-
84855358566
-
Neurologic considerations in propionic acidemia
-
J
-
Schreiber J, Chapman KA, Summar ML, Ah Mew N, Sutton VR, Macleod E. Neurologic considerations in propionic acidemia[J]. Mol Genet Metab, 2012, 105(1):10-15.
-
(2012)
Mol Genet Metab
, vol.105
, Issue.1
, pp. 10-15
-
-
Schreiber, J.1
Chapman, K.A.2
Summar, M.L.3
Ah Mew, N.4
Sutton, V.R.5
Macleod, E.6
-
13
-
-
12344264891
-
An inborn error of metabolism presenting as hypoxic-ischemic insult
-
DOI 10.1016/j.pediatrneurol.2004.07.010, PII S0887899404004047
-
Eyaid WM, Al-Nouri DM, Rashed MS, Al-Rifai MT, Al-Wakeel AS. An inborn error of metabolism presenting as hypoxic-ischemic insult[J]. Pediatr Neurol, 2005, 32(2):134-136. (Pubitemid 40138699)
-
(2005)
Pediatric Neurology
, vol.32
, Issue.2
, pp. 134-136
-
-
Eyaid, W.M.1
Al-Nouri, D.M.2
Rashed, M.S.3
Al-Rifai, M.T.4
Al-Wakeel, A.S.5
-
14
-
-
77149127415
-
Clinical and biochemical characteristics of patients with urea cycle disorders in a developing country
-
J
-
Ibarra-González I, Fernández-Lainez C, Vela-Amieva M. Clinical and biochemical characteristics of patients with urea cycle disorders in a developing country[J]. Clin Biochem, 2010, 43(4-5):461-466.
-
(2010)
Clin Biochem
, vol.43
, Issue.4-5
, pp. 461-466
-
-
Ibarra-González, I.1
Fernández-Lainez, C.2
Vela-Amieva, M.3
-
15
-
-
84863698799
-
-
Chinese source
-
-
-
|