Results
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424.
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Domains of Daily Physical Activity in Children with Mitochondrial Disease: A 3D Accelerometry Approach. [electronic resource] by
- Koene, Saskia
- Dirks, Ilse
- van Mierlo, Esmee
- de Vries, Pascal R
- Janssen, Anjo J W M
- Smeitink, Jan A M
- Bergsma, Arjen
- Essers, Hans
- Meijer, Kenneth
- de Groot, Imelda J M
Publication details: JIMD reports 2017
In:
JIMD reports vol. 36
Availability: No items available.
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425.
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426.
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427.
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The Spectrum of Niemann-Pick Type C Disease in Greece. [electronic resource] by
- Mavridou, Irene
- Dimitriou, Evangelia
- Vanier, Marie T
- Vilageliu, Lluisa
- Grinberg, Daniel
- Latour, Philippe
- Xaidara, Athina
- Lycopoulou, Lilia
- Bostantjopoulou, Sevasti
- Zafeiriou, Dimitrios
- Michelakakis, Helen
Publication details: JIMD reports 2017
In:
JIMD reports vol. 36
Availability: No items available.
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428.
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429.
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432.
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433.
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434.
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435.
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Leukoencephalopathy due to Complex II Deficiency and Bi-Allelic SDHB Mutations: Further Cases and Implications for Genetic Counselling. [electronic resource] by
- Grønborg, Sabine
- Darin, Niklas
- Miranda, Maria J
- Damgaard, Bodil
- Cayuela, Jorge Asin
- Oldfors, Anders
- Kollberg, Gittan
- Hansen, Thomas V O
- Ravn, Kirstine
- Wibrand, Flemming
- Østergaard, Elsebet
Publication details: JIMD reports 2017
In:
JIMD reports vol. 33
Availability: No items available.
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436.
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Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD). [electronic resource] by
- Balasubramaniam, Shanti
- Lewis, B
- Mock, D M
- Said, H M
- Tarailo-Graovac, M
- Mattman, A
- van Karnebeek, C D
- Thorburn, D R
- Rodenburg, R J
- Christodoulou, J
Publication details: JIMD reports 2017
In:
JIMD reports vol. 33
Availability: No items available.
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437.
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