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1.
Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia.
J Hum Genet;
62(3): 355-360, 2017 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-27904153
2.
Clinical and metabolic findings in patients with methionine adenosyltransferase I/III deficiency detected by newborn screening.
Mol Genet Metab;
110(3): 218-21, 2013 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-23993429
3.
Corrigendum to "Clinical and metabolic findings in patients with methionine adenosyltransferase I/III deficiency detected by newborn screening" [Mol. Genet. Metab. 110 (2013) 218-221].
Mol Genet Metab;
114(3): 486, 2015 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-25877476
4.
Value of genetic analysis for confirming inborn errors of metabolism detected through the Spanish neonatal screening program.
Eur J Hum Genet;
27(4): 556-562, 2019 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-30626930
5.
Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants.
Orphanet J Rare Dis;
13(1): 125, 2018 07 24.
Artículo
en Inglés
| MEDLINE | ID: mdl-30041674
6.
Assessment of intestinal microbiota of full-term breast-fed infants from two different geographical locations.
Early Hum Dev;
87(7): 511-3, 2011 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-21501935
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