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author_facet:"Patterson, Marc"
product_txtF_mv:"Springer eBooks 2005-"
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1
JIMD Reports, Volume 33
Published 2017
Springer Berlin Heidelberg
Table of Contents:
“
...Difficulties in Daily Life and
Associated
Factors, and QoL of Children with Inherited Metabolic...
”
Read Now
2
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
3
JIMD Reports, Volume 42
Published 2018
Springer Berlin Heidelberg
Table of Contents:
“
... Cell Tumour of the Mandible: A Disease
Association
or Iatrogenic Complication of Therapy...
”
Read Now
4
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
5
JIMD Reports, Volume 27
Published 2016
Springer Berlin Heidelberg
Table of Contents:
“
... Transcarbamylase Deficiency -- No Evidence for
Association
of SCO2 Heterozygosity with High-Grade Myopia or Other...
”
Read Now
6
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
7
JIMD Reports, Volume 36
Published 2017
Springer Berlin Heidelberg
Table of Contents:
“
... Concentrations in Tyrosinemia Type 1 Patients? -- A Homozygous Mutation in GPT2
Associated
with Nonsyndromic...
”
Read Now
8
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
9
JIMD Reports, Volume 31
Published 2017
Springer Berlin Heidelberg
Table of Contents:
“
... in an Infant with Transaldolase Deficiency Is Well Tolerated and
Associated
with Normalization of Alpha...
”
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Patterson, Marc
Rahman, Shamima
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