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内部出版物
Elsevier电子期刊(3)
在“
Elsevier电子期刊
”中,
命中:
3
条,耗时:小于0.01 秒
在所有数据库中总计命中:
3
条
1.
Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa
作者:
Aikaterini Dimopoulou
;
Bj?rn Fischer
;
Thatjana Gardeitchik
;
Phillipe Schr?ter
;
H¨¹lya Kayserili
;
Claire Schlack
;
Yun Li
;
Jaime
Moritz
Brum
;
Ingeborg Barisic
;
Marco Castori
;
Christiane Spaich
;
Elaine Fletcher
;
Zeina Mahayri
;
Meenakshi Bhat
;
Katta M. Girisha
;
Katherine Lachlan
;
Diana Johnson
;
Shubha Phadke
;
Neerja Gupta
;
Martina Sim
;
lova
;
et al.
关键词:
Autosomal recessive cutis laxa
;
PYCR1
;
Proline
;
Mitochondria
;
Segmental progeroid disorders
刊名:Molecular Genetics and Metabolism
出版年:2013
2.
Analysis of novel ARG1 mutations causing hyperargininemia and correlation with arginase I activity in erythrocytes
作者:
Daniel Rocha Carvalho
;
Guilherme Dotto Br
;
Jaime
Moritz
Brum
;
Reinaldo Issao Takata
;
Carlos Eduardo Speck-Martins
;
Riccardo Pratesi
关键词:
ARG1
;
enzyme arginase I
;
ARG1
;
gene of arginase I
;
ARG2
;
enzyme arginase II
;
ARG2
;
gene of arginase II
;
EC
;
Enzyme Commission number
;
HA
;
hyperargininemia
;
MT
;
mutated protein
;
OMIM ID
;
identifier in the Online Mendelian Inheritance in Man
;
WT
;
wild-type
刊名:Gene
出版年:2012
3.
Guidelines for the Management of Mucopolysaccharidosis Type I
作者:
Ana Maria Martins
;
Ana Paula Dualibi
;
Denise Norato
;
Edna Tiemi Takata
;
Emerson S. Santos
;
Eugê
;
nia Ribeiro Valadares
;
Gilda Porta
;
Gisele de Luca
;
Gustavo Moreira
;
Helena Pimentel
;
Janice Coelho
;
Jaime
Moritz
Brum
;
José
;
Semionato Filho
;
Marcelo Soares Kerstenetzky
;
Má
;
rcia R. Guimar
刊名:The Journal of Pediatrics
出版年:2009
1
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作者(3)
按出版年细分(3)
2013年(1)
2012年(1)
2009年(1)
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