Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Paulina Mabe S"'
Autor:
Paulina Mabe S.
Publikováno v:
Revista chilena de nutrición. 31
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::95ee43cdef4586e319d4aa88deaf2c47
https://doi.org/10.4067/s0717-75182004000100001
https://doi.org/10.4067/s0717-75182004000100001
Autor:
Erna Raimann B, Viviana Manríquez E, Alf Valiente G, Verónica Cornejo E, Paulina Mabe S, Alicia De la Parra C, Mónica Jiménez M, Marta Colombo C
Publikováno v:
Revista médica de Chile v.131 n.11 2003
SciELO Chile
CONICYT Chile
instacron:CONICYT
SciELO Chile
CONICYT Chile
instacron:CONICYT
Phenylketonuria (PKU) is due to of a defect in the phenylalanine hydroxylase gene (12q22-24.1) leading to hyperphenylalaninemia. Treatment consists in a low phenylalanine (Phe) diet. Aim: To evaluate the evolution of early diagnosed PKU children, rec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6028c6ceb62d9892c0991a250884225e
http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872003001100008
http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872003001100008
Publikováno v:
Revista médica de Chile v.131 n.3 2003
SciELO Chile
CONICYT Chile
instacron:CONICYT
Revista médica de Chile, Volume: 131, Issue: 3, Pages: 314-319, Published: MAR 2003
SciELO Chile
CONICYT Chile
instacron:CONICYT
Revista médica de Chile, Volume: 131, Issue: 3, Pages: 314-319, Published: MAR 2003
We report a female newborn with type II mucolipidoses. This condition is characterized clinically by Hurler like features, progressive psychomotor retardation and death during the first or second year of life. Most cases present during the first year
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::15b0a0a0f94c3fe49052d139bdb15fca
http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872003000300011
http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872003000300011
Autor:
Verónica Cornejo E, Marta Colombo C, Alicia De la Parra C, Paulina Mabe S, Gloria Durán S, Alf Valiente G, Erna Raimann B, Mónica Jiménez M
Publikováno v:
Revista médica de Chile, Volume: 130, Issue: 3, Pages: 259-266, Published: MAR 2002
Revista médica de Chile v.130 n.3 2002
SciELO Chile
CONICYT Chile
instacron:CONICYT
Revista médica de Chile v.130 n.3 2002
SciELO Chile
CONICYT Chile
instacron:CONICYT
Background: Propionic aciduria (PA) and Methymalonic aciduria (MMA) result from an inherited abnormality of the enzymes propionyl CoA carboxylase and methylmalonyl CoA mutase respectively. This produces marked increases in the amino acids methionine,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0896b73b15a4cc5fc02f6cf8b4b32845
http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872002000300003&lng=en&tlng=en
http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872002000300003&lng=en&tlng=en