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JIMD Reports - JIMD Reports, Volume 37
Latest Publications
TOTAL DOCUMENTS
15
(FIVE YEARS 0)
H-INDEX
4
(FIVE YEARS 0)
Published By Springer Berlin Heidelberg
9783662563588, 9783662563595
Latest Documents
Most Cited Documents
Contributed Authors
Related Sources
Related Keywords
Latest Documents
Most Cited Documents
Contributed Authors
Related Sources
Related Keywords
Hyperphenylalaninemia Correlated with Global Decrease of Antioxidant Genes Expression in White Blood Cells of Adult Patients with Phenylketonuria
JIMD Reports - JIMD Reports, Volume 37
◽
10.1007/8904_2017_16
◽
2017
◽
pp. 73-83
◽
Cited By ~ 3
Author(s):
Charlotte Veyrat-Durebex
◽
Christelle Debeissat
◽
Hélène Blasco
◽
Franck Patin
◽
Hélène Henique
◽
...
Keyword(s):
Blood Cells
◽
White Blood Cells
◽
Adult Patients
◽
Antioxidant Genes
◽
Genes Expression
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Neonatal-Onset Hereditary Coproporphyria: A New Variant of Hereditary Coproporphyria
JIMD Reports - JIMD Reports, Volume 37
◽
10.1007/8904_2017_20
◽
2017
◽
pp. 99-106
◽
Cited By ~ 1
Author(s):
Kosei Hasegawa
◽
Hiroyuki Tanaka
◽
Miho Yamashita
◽
Yousuke Higuchi
◽
Takayuki Miyai
◽
...
Keyword(s):
Neonatal Onset
◽
New Variant
◽
Hereditary Coproporphyria
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Systematic Review and Meta-analysis of Intelligence Quotient in Early-Treated Individuals with Classical Galactosemia
JIMD Reports - JIMD Reports, Volume 37
◽
10.1007/8904_2017_22
◽
2017
◽
pp. 115-123
◽
Cited By ~ 10
Author(s):
Lindsey Welling
◽
Susan E. Waisbren
◽
Kevin M. Antshel
◽
Hugh-Owen Colhoun
◽
Matthias Gautschi
◽
...
Keyword(s):
Systematic Review
◽
Intelligence Quotient
◽
Meta Analysis
◽
Classical Galactosemia
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The Impact of Fabry Disease on Reproductive Fitness
JIMD Reports - JIMD Reports, Volume 37
◽
10.1007/8904_2017_17
◽
2017
◽
pp. 85-97
◽
Cited By ~ 1
Author(s):
Dawn A. Laney
◽
Virginia Clarke
◽
Allison Foley
◽
Eric W. Hall
◽
Scott E. Gillespie
◽
...
Keyword(s):
Fabry Disease
◽
Reproductive Fitness
◽
The Impact
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Favourable Outcome in Two Pregnancies in a Patient with 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency
JIMD Reports - JIMD Reports, Volume 37
◽
10.1007/8904_2017_7
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2017
◽
pp. 1-5
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Cited By ~ 4
Author(s):
David Santosa
◽
Markus G. Donner
◽
Stephan vom Dahl
◽
Markus Fleisch
◽
Thomas Hoehn
◽
...
Keyword(s):
Favourable Outcome
◽
Lyase Deficiency
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Widening the Heterogeneity of Leigh Syndrome: Clinical, Biochemical, and Neuroradiologic Features in a Patient Harboring a NDUFA10 Mutation
JIMD Reports - JIMD Reports, Volume 37
◽
10.1007/8904_2017_9
◽
2017
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pp. 37-43
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Cited By ~ 7
Author(s):
Francesca Minoia
◽
Marta Bertamino
◽
Paolo Picco
◽
Mariasavina Severino
◽
Andrea Rossi
◽
...
Keyword(s):
Leigh Syndrome
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Dihydropyrimidine Dehydrogenase Deficiency: Metabolic Disease or Biochemical Phenotype?
JIMD Reports - JIMD Reports, Volume 37
◽
10.1007/8904_2017_14
◽
2017
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pp. 49-54
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Cited By ~ 4
Author(s):
M. Fleger
◽
J. Willomitzer
◽
R. Meinsma
◽
M. Alders
◽
J. Meijer
◽
...
Keyword(s):
Metabolic Disease
◽
Dehydrogenase Deficiency
◽
Dihydropyrimidine Dehydrogenase
◽
Biochemical Phenotype
◽
Dihydropyrimidine Dehydrogenase Deficiency
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Potential Misdiagnosis of Hyperhomocysteinemia due to Cystathionine Beta-Synthase Deficiency During Pregnancy
JIMD Reports - JIMD Reports, Volume 37
◽
10.1007/8904_2017_15
◽
2017
◽
pp. 55-61
◽
Cited By ~ 1
Author(s):
Sally P. Stabler
◽
Cynthia Freehauf
◽
Robert H. Allen
◽
Janet Thomas
◽
Renata Gallagher
Keyword(s):
Cystathionine Beta Synthase
Download Full-text
Clinical and Molecular Variability in Patients with PHKA2 Variants and Liver Phosphorylase b Kinase Deficiency
JIMD Reports - JIMD Reports, Volume 37
◽
10.1007/8904_2017_8
◽
2017
◽
pp. 63-72
◽
Cited By ~ 2
Author(s):
Deeksha S. Bali
◽
Jennifer L. Goldstein
◽
Keri Fredrickson
◽
Stephanie Austin
◽
Surekha Pendyal
◽
...
Keyword(s):
Molecular Variability
Download Full-text
Development and Psychometric Evaluation of the MetabQoL 1.0: A Quality of Life Questionnaire for Paediatric Patients with Intoxication-Type Inborn Errors of Metabolism
JIMD Reports - JIMD Reports, Volume 37
◽
10.1007/8904_2017_11
◽
2017
◽
pp. 27-35
◽
Cited By ~ 7
Author(s):
Nina A. Zeltner
◽
Matthias R. Baumgartner
◽
Aljona Bondarenko
◽
Regina Ensenauer
◽
Daniela Karall
◽
...
Keyword(s):
Quality Of Life
◽
Inborn Errors Of Metabolism
◽
Psychometric Evaluation
◽
Life Questionnaire
◽
Inborn Errors
◽
Quality Of Life Questionnaire
◽
Paediatric Patients
Download Full-text
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