Clinical and metabolic findings in patients with methionine adenosyltransferase I/III deficiency detected by newborn screening (vol 110, pg 218, 2013)

Couce Maria L.; Boveda M. Dolores; Garcia-Jimemez Concepcion; Balmaseda Elena; Vives Inmaculada; Castineiras Daisy E.; Fernandez-Marmiesse Ana; Fraga Jose M.; Mudd S. Harvey; Corrales Fernando J.

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Clinical and metabolic findings in patients with methionine adenosyltransferase I/III deficiency detected by newborn screening (vol 110, pg 218, 2013)

机译：新生儿筛查发现甲硫氨酸腺苷转移酶I / III缺乏症患者的临床和代谢发现（vol 110，pg 218，2013）

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《Molecular genetics and metabolism》 |2015年第3期|共1页
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Couce Maria L.; Boveda M. Dolores; Garcia-Jimemez Concepcion; Balmaseda Elena; Vives Inmaculada; Castineiras Daisy E.; Fernandez-Marmiesse Ana; Fraga Jose M.; Mudd S. Harvey; Corrales Fernando J.;
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正文语种 eng
中图分类内分泌腺疾病及代谢病;
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1. Clinical and metabolic findings in patients with methionine adenosyltransferase I/III deficiency detected by newborn screening (vol 110, pg 218, 2013) [J] . Couce Maria L., Boveda M. Dolores, Garcia-Jimemez Concepcion, Molecular genetics and metabolism . 2015,第3期

机译：新生儿筛查发现甲硫氨酸腺苷转移酶I / III缺乏症患者的临床和代谢发现（vol 110，pg 218，2013）
2. Spectrum of mutations associated with methionine adenosyltransferase I/III deficiency among individuals identified during newborn screening in Japan [J] . Masayoshi Nagao, Toju Tanaka, Mahoko Furujo Molecular genetics and metabolism . 2013,第4期

机译：日本新生儿筛查中发现的与甲硫氨酸腺苷基转移酶I / III缺乏症相关的突变谱
3. Hypermethioninaemia due to methionine adenosyltransferase I/III (MAT I/III) deficiency: Diagnosis in an expanded neonatal screening programme [J] . M. L. Couce, M. D. Bóveda, D. E. Casti?eiras, Journal of Inherited Metabolic Disease . 2008,第s2期

机译：甲硫氨酸腺苷转移酶I / III（MAT I / III）缺乏引起的高甲硫氨酸血症：扩大新生儿筛查程序的诊断
4. Potential Interferences in the MS/MS Analysis of Acylcarnitines and Amino Acids in Dried Blood Spots Provide Important Clinical Information in Newborn and Metabolic Screening [C] . Donald H. Chace, Victor R. De Jesus, Timothy H. Lim, American Society for Mass Spectrometry Conference on Mass Spectrometry and Allied Topics . 2010

机译：在干血斑中的酰基甘油碱和氨基酸的潜在干扰分析和干血斑中的氨基酸在新生儿和代谢筛查中提供重要的临床信息
5. Determination of Autosomal Dominant or Recessive Methionine Adenosyltransferase I/III Deficiencies Based on Clinical and Molecular Studies [O] . Yoo-Mi Kim, Ja Hye Kim, Jin-Ho Choi, 2016

机译：基于临床和分子研究确定常染色体显性或隐性蛋氨酸腺苷转移酶I / III缺陷
6. Hypermethioninaemia due to methionine adenosyltransferase I/III (MAT I/III) deficiency: diagnosis in an expanded neonatal screening programme [O] . Couce, M.L. (ML), Boveda, M.D. (MD), Castiñeiras, D.E. (DE), 2008

机译：甲硫氨酸腺苷转移酶I / III（MAT I / III）缺乏引起的高甲硫氨酸血症：在扩大的新生儿筛查程序中进行诊断

Clinical and metabolic findings in patients with methionine adenosyltransferase I/III deficiency detected by newborn screening (vol 110, pg 218, 2013)

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