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CNKI学位论文(1)
在“
Elsevier电子期刊
”中,
命中:
18
条,耗时:小于0.01 秒
在所有数据库中总计命中:
1
条
1.
Exome sequencing identifies CTSK mutations in patients originally diagnosed as intermediate osteopetrosis
作者:
Aless
;
ra Pangrazio
;
Aless
;
ro Puddu
;
Manuela Oppo
;
Maria Valentini
;
Luca Zammataro
;
Ashok
Vellodi
;
Blanca Gener
;
Isabel Llano-Rivas
;
Jamal Raza
;
Irum Atta
;
Paolo Vezzoni
;
Andrea Superti-Furga
;
Anna Villa
;
Cristina Sobacchi
关键词:
Exome sequencing
;
CTSK
;
Sclerosing bone disorder
;
Differential diagnosis
;
Therapy
刊名:Bone
出版年:February, 2014
2.
Pulmonary disease in type III Gaucher disease refractory to conventional enzyme replacement therapy
作者:
James E. Davison
;
Colin Wallis
;
Francesco Mauri
;
Matthew Berry
;
Ashok
Vellodi
刊名:Molecular Genetics and Metabolism
出版年:February, 2014
3.
Update on glucose tetrasaccharide (Glc4) in urine and saliva as a potential biomarker in Pompe disease
作者:
Helen Prunty
;
Alex
;
er Broomfield
;
Ashok
Vellodi
;
Maureen Cleary
;
Katie Harvey
;
Biljana Lukovic
;
Derek Burke
;
Paul Lock
;
Simon Heales
刊名:Molecular Genetics and Metabolism
出版年:February, 2014
4.
Survival and developmental milestones among Pompe registry patients with classic infantile-onset Pompe disease with different timing of initiation of treatment with enzyme replacement therapy (ERT)
作者:
Yin-Hsiu Chien
;
Ans van der Ploeg
;
Simon A. Jones
;
Barry Byrne
;
Ashok
Vellodi
;
Nancy Leslie
;
Eugen Mengel
;
Suma Shankar
;
Pranoot Tanpaiboon
;
David W. Stockton
;
Julia B. Hennermann
;
Zsuzsanna Devecseri
;
Judy Kempf
;
Joan Keutzer
;
Priya S. Kishnani
刊名:Molecular Genetics and Metabolism
出版年:February, 2014
5.
The use of GAITRite庐 in the evaluation of paediatric patients with Niemann-Pick disease type C
作者:
Alex
;
er A. Broomfield
;
Michelle Wood
;
Niamh Finnegan
;
Ashok
Vellodi
刊名:Molecular Genetics and Metabolism
出版年:February, 2014
6.
Fucosidosis: the UK experience reflecting the natural history of this rare disorder
作者:
Elisabeth Jameson
;
Catherine Breen
;
Alex
;
er Broomfield
;
Saikat Santra
;
Germaine Pierre
;
Robin Lachmann
;
Fiona Stewart
;
Karen Tylee
;
Heather Church
;
Ashok
Vellodi
;
Simon Jones
刊名:Molecular Genetics and Metabolism
出版年:February, 2014
7.
Limited clinical impact of anti-idursulfase antibodies developed during long-term idursulfase enzyme replacement therapy (ERT) in mucopolysaccharidosis II (MPS II, Hunter syndrome) patients aged 5-35 years
作者:
Paul Harmatz
;
Roberto Giugliani
;
Nancy J. Mendelsohn
;
Ashok
Vellodi
;
Yune Kunes
;
Kenneth Sciarappa
;
Bonnie Bielefeld
;
Ann J. Barbier
;
Arian Pano
;
Christian J. Hendriksz
;
Suresh Vijayaraghavan
刊名:Molecular Genetics and Metabolism
出版年:February, 2014
8.
Progression of feeding skills in infantile Pompe disease - the GOSH experience
作者:
Sonia Lozano
;
Ashok
Vellodi
;
Alex
;
er Broomfield
刊名:Molecular Genetics and Metabolism
出版年:February, 2014
9.
Discovery of a new biomarker for the mucopolysaccharidoses (MPS), dipeptidyl peptidase IV (DPP-IV; CD26), by SELDI-TOF mass spectrometry
作者:
Clare E. Beesley
;
Elisabeth P. Young
;
Niamh Finnegan
;
Marie Jackson
;
Kevin Mills
;
Ashok
Vellodi
;
Maureen Cleary
;
Bryan G. Winchester
关键词:
Mucopolysaccharidoses (MPS)
;
Biomarker
;
Dipeptidyl peptidase IV (DPP-IV)
;
CD26
;
Apolipoprotein-CI and CI′
;
Surface enhanced laser desorption/ionisation time of flight (SELDI-TOF) mass spectrometry
刊名:Molecular Genetics and Metabolism
出版年:2009
10.
35. Guidelines for the assessment and monitoring of bone disease in children with Gaucher disease
作者:
Gregory A. Grabowski
;
Thomas Hangartner
;
Paige Kaplan
;
Mario Maas
;
Giuliano Mariani
;
Kieran McHugh
;
Sheila Moore
;
Ashok
Vellodi
;
John Yee
;
Lynne Steinbach
关键词:
Pyridox(am)ine 5′
;
-phosphate oxidase
;
PNPO
;
Pyridoxal 5′
;
-phosphate
;
PLP
;
Neonatal convulsions
;
Burst-suppression
;
Vanillactate
;
Hyperglycinemia
刊名:Molecular Genetics and Metabolism
出版年:2008
1
2
按检索点细分(18)
作者(18)
按出版年细分(18)
2027年及以后(8)
2009年(2)
2008年(7)
2007年(1)
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