Results
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381.
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382.
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383.
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Two novel mutations in the adrenoleukodystrophy gene in two unrelated Japanese families and the long-term effect of bone marrow transplantation. [electronic resource] by
- Ohi, T
- Takechi, S
- Itokazu, N
- Shiomi, K
- Sugimoto, S
- Antoku, Y
- Kato, K
- Sugimoto, T
- Nakayama, T
- Matsukura, S
Producer: 20001023
In:
Journal of the neurological sciences vol. 177
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384.
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385.
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Expanding the spectrum of PEX10-related peroxisomal biogenesis disorders: slowly progressive recessive ataxia. [electronic resource] by
- Renaud, Mathilde
- Guissart, Claire
- Mallaret, Martial
- Ferdinandusse, Sacha
- Cheillan, David
- Drouot, Nathalie
- Muller, Jean
- Claustres, Mireille
- Tranchant, Christine
- Anheim, Mathieu
- Koenig, Michel
Producer: 20170411
In:
Journal of neurology vol. 263
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386.
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387.
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388.
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389.
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390.
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391.
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Defective PEX gene products correlate with the protein import, biochemical abnormalities, and phenotypic heterogeneity in peroxisome biogenesis disorders. [electronic resource] by
- Shimozawa, N
- Imamura, A
- Zhang, Z
- Suzuki, Y
- Orii, T
- Tsukamoto, T
- Osumi, T
- Fujiki, Y
- Wanders, R J
- Besley, G
- Kondo, N
Producer: 19991119
In:
Journal of medical genetics vol. 36
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392.
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Essential fatty acid profiling for routine nutritional assessment unmasks adrenoleukodystrophy in an infant with isovaleric acidaemia. [electronic resource] by
- Bonilla Guerrero, R
- Wolfe, L A
- Payne, N
- Tortorelli, S
- Matern, D
- Rinaldo, P
- Gavrilov, D
- Melan, M
- He, M
- Steinberg, S J
- Raymond, G V
- Vockley, J
- Gibson, K M
Producer: 20120111
In:
Journal of inherited metabolic disease vol. 31 Suppl 2
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393.
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Cholesterol transport through lysosome-peroxisome membrane contacts. [electronic resource] by
- Chu, Bei-Bei
- Liao, Ya-Cheng
- Qi, Wei
- Xie, Chang
- Du, Ximing
- Wang, Jiang
- Yang, Hongyuan
- Miao, Hong-Hua
- Li, Bo-Liang
- Song, Bao-Liang
Producer: 20150702
In:
Cell vol. 161
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394.
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Improved growth and nutrition status in children with methylmalonic or propionic acidemia fed an elemental medical food. [electronic resource] by
- Yannicelli, Steven
- Acosta, Phyllis B
- Velazquez, Antonio
- Bock, Hans-Georg
- Marriage, Barbara
- Kurczynski, Thaddeus W
- Miller, Marvin
- Korson, Mark
- Steiner, Robert D
- Rutledge, Lane
- Bernstein, Laurie
- Chinsky, Jeffrey
- Galvin-Parton, Patricia
- Arnold, Georgianne L
Producer: 20041116
In:
Molecular genetics and metabolism vol. 80
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395.
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Identification of a new complementation group of the peroxisome biogenesis disorders and PEX14 as the mutated gene. [electronic resource] by
- Shimozawa, Nobuyuki
- Tsukamoto, Toshiro
- Nagase, Tomoko
- Takemoto, Yasuhiko
- Koyama, Naoki
- Suzuki, Yasuyuki
- Komori, Masayuki
- Osumi, Takashi
- Jeannette, Gootjes
- Wanders, Ronald J A
- Kondo, Naomi
Producer: 20040924
In:
Human mutation vol. 23
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