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Wiley电子期刊(1)
Springer电子图书(43)
SpringerLink电子期刊(20)
Elsevier电子期刊(6)
在“
Springer电子图书
”中,
命中:
43
条,耗时:小于0.01 秒
在所有数据库中总计命中:
70
条
1.
Neurodegeneration with Brain Iron Accumulation on MRI: An Adult Case of α-Mannosidosis
ContentType:Book Chapter
Publisher:
Springer Berlin Heidelberg
Author:
Society
for
the
Study
of
Inborn
Errors
of
Metabolism
2.
Utility of Rare Disease Registries in Latin America
ContentType:Book Chapter
Publisher:
Springer Berlin Heidelberg
Author:
Society
for
the
Study
of
Inborn
Errors
of
Metabolism
3.
Stroke and Stroke-Like Symptoms in Patients with Mutations in
the
POLG1 Gene
ContentType:Book Chapter
Publisher:
Springer Berlin Heidelberg
Author:
Society
for
the
Study
of
Inborn
Errors
of
Metabolism
4.
Favorable Long-Term Outcome Following Severe Neonatal Hyperammonemic Coma in a Patient with Argininosuccinate Syn
the
tase Deficiency
ContentType:Book Chapter
Publisher:
Springer Berlin Heidelberg
Author:
Society
for
the
Study
of
Inborn
Errors
of
Metabolism
5.
Relevance of Expanded Neonatal Screening of Medium-Chain Acyl Co-A Dehydrogenase Deficiency: Outcome of a Decade in Galicia (Spain)
ContentType:Book Chapter
Publisher:
Springer Berlin Heidelberg
Author:
Society
for
the
Study
of
Inborn
Errors
of
Metabolism
6.
The
Molecular Landscape of Phosphomannose Mutase Deficiency in Iberian Peninsula: Identification of 15 Population-Specific Mutations
ContentType:Book Chapter
Publisher:
Springer Berlin Heidelberg
Author:
Society
for
the
Study
of
Inborn
Errors
of
Metabolism
7.
Quantitative Analysis of mtDNA Content in
For
malin-Fixed Paraffin-Embedded Muscle Tissue
ContentType:Book Chapter
Publisher:
Springer Berlin Heidelberg
Author:
Society
for
the
Study
of
Inborn
Errors
of
Metabolism
8.
Two Cases of Pulmonary Hypertension Associated with Type III Glycogen Storage Disease
ContentType:Book Chapter
Publisher:
Springer Berlin Heidelberg
Author:
Society
for
the
Study
of
Inborn
Errors
of
Metabolism
9.
Successful Screening
for
Gaucher Disease in a High-Prevalence Population in Tabuleiro do Norte (Nor
the
astern Brazil): A Cross-Sectional
Study
ContentType:Book Chapter
Publisher:
Springer Berlin Heidelberg
Author:
Society
for
the
Study
of
Inborn
Errors
of
Metabolism
10.
Newborn Screening
for
Tyrosinemia Type I: Fur
the
r Evidence that Succinylacetone Determination on Blood Spot Is Essential
ContentType:Book Chapter
Publisher:
Springer Berlin Heidelberg
Author:
Society
for
the
Study
of
Inborn
Errors
of
Metabolism
1
2
3
4
5
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Author(43)
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