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在“
SpringerLink电子期刊
”中,
命中:
260
条,耗时:0.0130229 秒
在所有数据库中总计命中:
729
条
1.
Metabolic progression to clinical phenotype in classic Fabry disease
作者:
Marco Spada
;
David Kasper
;
Veronica Pagliardini…
关键词:
Fabry disease
;
Globotriaosylsphingosine
;
Lysosomal
storage
disorders
刊名:Italian Journal of Pediatrics
出版年:2017
2.
Identification of a large intronic transposal insertion in
SLC17A5
causing sialic acid
storage
disease
作者:
Maja Tarailo-Graovac
;
Britt I. Drögemöller…
关键词:
Sialic acid
storage
disease
;
Salla disease
;
SLC17A5
;
Whole exome sequencing
;
Transposon insertion
刊名:Orphanet Journal of Rare Diseases
出版年:2017
3.
Early disease progression of Hurler syndrome
作者:
Bridget T. Kiely
;
Jennifer L. Kohler…
关键词:
Mucopolysaccharidosis type I
;
MPS I
;
Hurler syndrome
;
lysosomal
storage
disorders
;
Newborn screening
;
Natural history
刊名:Orphanet Journal of Rare Diseases
出版年:2017
4.
Pulmonary manifestations in Niemann-Pick type C disease with mutations in
NPC2
gene: case report and review of literature
作者:
Jayesh Sheth
;
Jijo John Joseph
;
Krati Shah
;
Mamta Muranjan…
关键词:
Alveolar proteinosis
;
Case report
;
Hepatosplenomegaly
;
Lung involvement
;
Lysosomal
Storage
Disorders
;
Niemann
;
Pick disease type C
;
NPC2 gene
刊名:BMC Medical Genetics
出版年:2017
5.
Clinical, biochemical and molecular characterization of Korean patients with mucolipidosis II/III and successful prenatal diagnosis
作者:
Mina Yang
;
Sung Yun Cho
;
Hyung-Doo Park
;
Rihwa Choi…
关键词:
GNPTAB
;
Lysosomal
storage
disease
;
Mucolipidosis
;
Prenatal diagnosis
刊名:Orphanet Journal of Rare Diseases
出版年:2017
6.
Acro-osteolysis
作者:
Anna Botou
;
Athanasios Bangeas
;
Ioannis Alexiou
;
Lazaros I. Sakkas
关键词:
Digital ischemia
;
Infection
;
Psoriatic arthritis
;
Systemic sclerosis
;
Transverse acro
;
osteolysis
刊名:Clinical Rheumatology
出版年:2017
7.
Diagnosis of late-onset Pompe disease and other muscle
disorders
by next-generation sequencing
作者:
Sébastien Lévesque
;
Christiane Auray-Blais…
关键词:
Pompe disease
;
Lysosomal
disorders
;
Muscle
disorders
;
Next
;
generation sequencing
刊名:Orphanet Journal of Rare Diseases
出版年:2016
8.
Newborn Screening for
Lysosomal
Storage
Disorders
: Views of Genetic Healthcare Providers
作者:
Emily C. Lisi
;
Shawn E. McCandless
关键词:
Newborn screening
;
Lysosomal
storage
diseases
;
Qualitative research
;
Healthcare providers’ opinions
刊名:Journal of Genetic Counseling
出版年:2016
9.
The impact of the immune system on the safety and efficiency of enzyme replacement therapy in
lysosomal
storage
disorders
作者:
A. Broomfield
;
S. A. Jones
;
S. M. Hughes…
刊名:Journal of Inherited Metabolic Disease
出版年:2016
10.
Ethical Considerations When Including
Lysosomal
Storage
Disorders
in Newborn Screening Programs
作者:
Catherine Walsh Vockley
;
Andrea M. Atherton
关键词:
Newborn screening
;
Lysosomal
storage
disorders
;
Recommended uniform screening panel
;
Ethics
刊名:Current Genetic Medicine Reports
出版年:2015
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