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author_facet:"Rahman, Shamima"
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1
JIMD Reports, Volume 42
Published 2018
Springer Berlin Heidelberg
Table of Contents:
“
... -- Characterization of Phenyalanine Hydroxylase
Gene
Mutations in Chilean PKU Patients -- Long-Term Systematic...
”
Read Now
2
JIMD Reports, Volume 38
Published 2018
Springer Berlin Heidelberg
Table of Contents:
“
...
Gene
Mutations -- Successful Management of Pregnancies in Patients with Inherited Disorders of Ketone...
”
Read Now
3
JIMD Reports, Volume 34
Published 2017
Springer Berlin Heidelberg
Table of Contents:
“
... to Disruption of the HLCS
Gene
in a Family with Holocarboxylase Synthetase Deficiency -- Delayed Infusion...
”
Read Now
4
JIMD Reports, Volume 37
Published 2017
Springer Berlin Heidelberg
Table of Contents:
“
... with Global Decrease of Antioxidant
Genes
Expression in White Blood Cells of Adult Patients...
”
Read Now
5
JIMD Reports, Volume 40
Published 2018
Springer Berlin Heidelberg
Table of Contents:
“
... Spasms in a Male Patient Due to a De Novo ALG13
Gene
Mutation -- Liver Failure as the Presentation...
”
Read Now
6
JIMD Reports, Volume 30
Published 2016
Springer Berlin Heidelberg
Table of Contents:
“
... of Cryptic Novel α-Galactosidase A
Gene
Mutations: Abnormal mRNA Splicing and Large Deletions -- Severe...
”
Read Now
7
JIMD Reports, Volume 43
Published 2019
Springer Berlin Heidelberg
Table of Contents:
“
...: A Report of 13 Patients -- Disruption of the Responsible
Gene
in a Phosphoglucomutase 1 Deficiency...
”
Read Now
8
JIMD Reports, Volume 33
Published 2017
Springer Berlin Heidelberg
Table of Contents:
“
... to Phytanoyl-CoA Hydroxylase Deficiency -- Novel Homozygous Missense Mutation in SPG20
Gene
Results in Troyer...
”
Read Now
9
JIMD Reports, Volume 45
Published 2019
Springer Berlin Heidelberg
Table of Contents:
“
... Deletion Within the PGK1
Gene
in Males with PGK1 Deficiency...
”
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Author: Rahman, Shamima
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Springer eBooks 2005-
9
Author
Baumgartner, Matthias
9
Morava, Eva
9
Patterson, Marc
9
Rahman, Shamima
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