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author_facet:"Baumgartner, Matthias"
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1
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
2
JIMD Reports, Volume 44
Published 2019
Springer Berlin Heidelberg
Table of Contents:
“
... with Transaldolase Deficiency -- Sialuria: Ninth Patient Described Has a
Novel
Mutation in GNE -- Stability...
”
Read Now
3
JIMD Reports, Volume 43
Published 2019
Springer Berlin Heidelberg
Table of Contents:
“
... Weakness, Cardiomyopathy, and L-2-Hydroxyglutaric Aciduria Associated with a
Novel
Recessive SLC25A4...
”
Read Now
4
JIMD Reports, Volume 34
Published 2017
Springer Berlin Heidelberg
Table of Contents:
“
...Diaphragmatic Eventration in Sisters with Asparagine Synthetase Deficiency: A
Novel
Homozygous ASNS...
”
Read Now
5
JIMD Reports, Volume 37
Published 2017
Springer Berlin Heidelberg
Table of Contents:
“
... Deficiency -- Lysosomal Acid Lipase Deficiency in 23 Spanish Patients: High Frequency of the
Novel
c.966+2T>G...
”
Read Now
6
JIMD Reports, Volume 25
Published 2016
Springer Berlin Heidelberg
Table of Contents:
“
... -- Exercise Intolerance and Myoglobinuria Associated with a
Novel
Maternally Inherited MT-ND1 Mutation -- PNPO...
”
Read Now
7
JIMD Reports, Volume 28
Published 2016
Springer Berlin Heidelberg
Table of Contents:
“
...Lethal Neonatal Progression of Fetal Cardiomegaly Associated to ACAD9 Deficiency --
Novel
Direct...
”
Read Now
8
JIMD Reports, Volume 45
Published 2019
Springer Berlin Heidelberg
Table of Contents:
“
... Transplantation for Monogenic Metabolic Liver Diseases: Single-Centre Experience -- A
Novel
Truncating FLAD1...
”
Read Now
9
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
10
JIMD Reports, Volume 40
Published 2018
Springer Berlin Heidelberg
Table of Contents:
“
... Deficiency --
Novel
Missense LCAT Gene Mutation Associated with an Atypical Phenotype of Familial LCAT...
”
Read Now
11
JIMD Reports, Volume 35
Published 2017
Springer Berlin Heidelberg
Table of Contents:
“
... Having a
Novel
LDLR Mutation -- Development of a Tandem Mass Spectrometry Method for Rapid Measurement...
”
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Morava, Eva
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Patterson, Marc
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Rahman, Shamima
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