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Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1 :phenotype...
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Clinical manifestation and a new ISCU mutation in iron-sulphur cluster deficienc...
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Clinical manifestation and a new ISCU mutation in iron-sulphur cluster deficienc...
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Epidemiology of lysosomal storage diseases in Sweden
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Year of Publication
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Document Type
Article in Journal/Newspaper
2
Text
2
Author
Darin, Niklas
Holme, Elisabeth
3
Andersen, Oluf
2
Holmgren, Daniel
2
Kollberg, Gittan
2
Melberg, Atle
2
Oldfors, Anders
2
Tulinius, Már
2
Amartino, Hernan
1
Batbayli, Mustafa
1
Bertini, Enrico
1
Bianchi, Marzia
1
Born, Alfred Peter
1
Buhas, Daniela
1
Burlina, Alberto
1
Carrozzo, Rosalba
1
Cordelli, Duccio M
1
Dionisi-Vici, Carlo
1
Duno, Morten
1
Hult, Malin
1
Joensen, Fróði
1
Jouvencel, Philippe
1
McFarland, Robert
1
Mesli, Samir
1
Månsson, Jan‐Eric
1
Naess, Karin
1
Osorio, Andrés Nascimento
1
Ostergaard, Elsebet
1
Prontera, Paolo
1
Rasmussen, Magnhild
1
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Topic
Original Articles
2
Adolescent
1
Adult
1
Amino Acid Metabolism
1
Amino Acid Sequence
1
Child
1
Codon
1
DNA
1
DNA Mutational Analysis
1
Female
1
Genotype
1
Humans
1
Inborn Errors
1
Infant
1
Journal Article
1
Male
1
Methylmalonic Acid
1
Missense
1
Mitochondrial
1
Mitochondrial Diseases
1
Mitochondrial Encephalomyopathies
1
Mutation
1
Newborn
1
Non-U.S. Gov't
1
Nonsense
1
Phenotype
1
Preschool
1
Research Support
1
Succinate-CoA Ligases
1
Young Adult
1
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Content Provider
HighWire Press (Stanford University)
2
University of Copenhagen: Research
1
Wiley Online Library
1
Geographic location
Two Brothers
2
Faroe Islands
1
Salla
1
Language
English
4
Open Polar Keyword
Northern Sweden
3
Faroe Islands
1
Northern Finland
1
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