Clinical and metabolic findings in patients with methionine adenosyltransferase I/III deficiency detected by newborn screening.
about
Mudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes.Newborn Screening for Homocystinuria Revealed a High Frequency of MAT I/III Deficiency in Iberian PeninsulaDetermination of Autosomal Dominant or Recessive Methionine Adenosyltransferase I/III Deficiencies Based on Clinical and Molecular StudiesNewborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines.Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders.High-methionine diets accelerate atherosclerosis by HHcy-mediated FABP4 gene demethylation pathway via DNMT1 in ApoE(-/-) mice.Chronic administration of methionine and/or methionine sulfoxide alters oxidative stress parameters and ALA-D activity in liver and kidney of young rats.Thirteen Patients with MAT1A Mutations Detected Through Newborn Screening: 13 Years' Experience.Development of an animal model for gestational hypermethioninemia in rat and its effect on brain Na⁺,K⁺-ATPase/Mg²⁺-ATPase activity and oxidative status of the offspring.Methionine Exposure Alters Glutamate Uptake and Adenine Nucleotide Hydrolysis in the Zebrafish Brain.Methionine adenosyltransferase I/III deficiency: beyond the central nervous system manifestations.Methionine and/or Methionine Sulfoxide Alter Ectoenzymes Activities in Lymphocytes and Inflammatory Parameters in Serum from Young Rats: Acute and Chronic Effects.
P2860
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P2860
Clinical and metabolic findings in patients with methionine adenosyltransferase I/III deficiency detected by newborn screening.
description
2013 nî lūn-bûn
@nan
2013年の論文
@ja
2013年学术文章
@wuu
2013年学术文章
@zh-cn
2013年学术文章
@zh-hans
2013年学术文章
@zh-my
2013年学术文章
@zh-sg
2013年學術文章
@yue
2013年學術文章
@zh
2013年學術文章
@zh-hant
name
Clinical and metabolic finding ...... detected by newborn screening.
@en
Clinical and metabolic finding ...... detected by newborn screening.
@nl
type
label
Clinical and metabolic finding ...... detected by newborn screening.
@en
Clinical and metabolic finding ...... detected by newborn screening.
@nl
prefLabel
Clinical and metabolic finding ...... detected by newborn screening.
@en
Clinical and metabolic finding ...... detected by newborn screening.
@nl
P2093
P1476
Clinical and metabolic finding ...... detected by newborn screening
@en
P2093
Ana Fernández-Marmiesse
Concepción García-Jimémez
Daisy E Castiñeiras
Elena Balmaseda
Fernando J Corrales
Inmaculada Vives
M Dolores Bóveda
S Harvey Mudd
P304
P356
10.1016/J.YMGME.2013.08.003
P577
2013-08-14T00:00:00Z