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Novel mutation of methylmalonyl-CoA mutase gene causing the mut0 form of methylmalonic acidemia in a Japanese girl
by
Oyama, Chikako
,
Takahashi, Tsutomu
,
Matsumori, Mika
,
Shoji, Yutaka
,
Tajima, Gou
,
Sakura, Nobuo
,
Hasegawa, Yuki
,
Yamaguchi, Seiji
,
Kakinuma, Hiroaki
,
Takada, Goro
Published in
Pediatrics international
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Novel mutation of methylmalonyl‐CoA mutase gene causing the mut 0 form of methylmalonic acidemia in a Japanese girl
by
OYAMA, CHIKAKO
,
TAKAHASHI, TSUTOMU
,
MATSUMORI, MIKA
,
SHOJI, YUTAKA
,
TAJIMA, GOU
,
SAKURA, NOBUO
,
HASEGAWA, YUKI
,
YAMAGUCHI, SEIJI
,
KAKINUMA, HIROAKI
,
TAKADA, GORO
Published in
Pediatrics international
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Novel mutation of methylmalonyl-CoA mutase gene causing the mut super(0) form of methylmalonic acidemia in a Japanese girl
by
Oyama, Chikako
,
Takahashi, Tsutomu
,
Matsumori, Mika
,
Shoji, Yutaka
,
Tajima, Gou
,
Sakura, Nobuo
,
Hasegawa, Yuki
,
Yamaguchi, Seiji
,
Kakinuma, Hiroaki
,
Takada, Goro
Published in
Pediatrics international
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Patient Report: Novel mutation of methylmalonyl-CoA mutase gene causing the mut 0 form of methylmalonic acidemia in a Japanese girl
by
CHIKAKO OYAMA
,
TSUTOMU TAKAHASHI
,
MIKA MATSUMORI
,
YUTAKA SHOJI
,
GOU TAJIMA
,
NOBUO SAKURA
,
YUKI HASEGAWA
,
SEIJI YAMAGUCHI
,
Kakinuma, Hiroaki
,
Takada, Goro
Published in
Pediatrics international
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Novel mutation of methylmalonyl-CoA mutase gene causing the mut 0 form of methylmalonic acidemia in a Japanese girl
by
OYAMA, CHIKAKO
,
TAKAHASHI, TSUTOMU
,
MATSUMORI, MIKA
,
SHOJI, YUTAKA
,
TAJIMA, GOU
,
SAKURA, NOBUO
,
HASEGAWA, YUKI
,
YAMAGUCHI, SEIJI
,
KAKINUMA, HIROAKI
,
TAKADA, GORO
Published in
Pediatrics International
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Peer Reviewed
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Reports
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Pediatrics International
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Pediatrics International : Official Journal Of The Japan Pediatric Society
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Subjects
Methylmalonic Aciduria
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2
Methylmalonyl Coa Mutase Gene
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2
Mut0
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2
Amino Acid Metabolism, Inborn Errors - Genetics
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Codon, Nonsense
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Female
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Humans
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Infant
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Japan
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Methylmalonic Acid - Blood
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Methylmalonyl-Coa Mutase - Deficiency
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Methylmalonyl-Coa Mutase - Genetics
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Mut^0
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Phenotype
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Wiley Online Library Backfiles
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