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1
Oculocutaneous Albinism Type 4 Is One of the Most Common Types of Albinism in Japan
Oculocutaneous Albinism Type 4 Is One of the Most Common Types of Albinism in Japan
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Oculocutaneous Albinism Type 4 Is One of the Most Common Types of Albinism in Japan

Inagaki, Katsuhiko ; Suzuki, Tamio ; Shimizu, Hiroshi ; Ishii, Norihisa ; Umezawa, Yoshinori ; Tada, Joji ; Kikuchi, Noriaki ; Takata, Minoru ; Takamori, Kenji ; Kishibe, Mari ; Tanaka, Michi ; Miyamura, Yoshinori ; Ito, Shiro ; Tomita, Yasushi

American journal of human genetics, 2004-03, Vol.74 (3), p.466-471 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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2
Studies on familial hypotransferrinemia : unique clinical course and molecular pathology
Studies on familial hypotransferrinemia : unique clinical course and molecular pathology
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Studies on familial hypotransferrinemia : unique clinical course and molecular pathology

HAYASHI, A ; WADA, Y ; SUZUKI, T ; SHIMIZU, A

American journal of human genetics, 1993-07, Vol.53 (1), p.201-213 [Periódico revisado por pares]

Chicago, IL: University of Chicago Press

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3
Mutation in PEX16 Is Causal in the Peroxisome-Deficient Zellweger Syndrome of Complementation Group D
Mutation in PEX16 Is Causal in the Peroxisome-Deficient Zellweger Syndrome of Complementation Group D
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Mutation in PEX16 Is Causal in the Peroxisome-Deficient Zellweger Syndrome of Complementation Group D

Honsho, Masanori ; Tamura, Shigehiko ; Shimozawa, Nobuyuki ; Suzuki, Yasuyuki ; Kondo, Naomi ; Fujiki, Yukio

American journal of human genetics, 1998-12, Vol.63 (6), p.1622-1630 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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4
Use of a Modified α-N-Acetylgalactosaminidase in the Development of Enzyme Replacement Therapy for Fabry Disease
Use of a Modified α-N-Acetylgalactosaminidase in the Development of Enzyme Replacement Therapy for Fabry Disease
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Use of a Modified α-N-Acetylgalactosaminidase in the Development of Enzyme Replacement Therapy for Fabry Disease

Tajima, Youichi ; Kawashima, Ikuo ; Tsukimura, Takahiro ; Sugawara, Kanako ; Kuroda, Mayuko ; Suzuki, Toshihiro ; Togawa, Tadayasu ; Chiba, Yasunori ; Jigami, Yoshifumi ; Ohno, Kazuki ; Fukushige, Tomoko ; Kanekura, Takuro ; Itoh, Kohji ; Ohashi, Toya ; Sakuraba, Hitoshi

American journal of human genetics, 2009-11, Vol.85 (5), p.569-580 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

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5
PEX3 Is the Causal Gene Responsible for Peroxisome Membrane Assembly–Defective Zellweger Syndrome of Complementation Group G
PEX3 Is the Causal Gene Responsible for Peroxisome Membrane Assembly–Defective Zellweger Syndrome of Complementation Group G
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PEX3 Is the Causal Gene Responsible for Peroxisome Membrane Assembly–Defective Zellweger Syndrome of Complementation Group G

Ghaedi, Kamran ; Honsho, Masanori ; Shimozawa, Nobuyuki ; Suzuki, Yasuyuki ; Kondo, Naomi ; Fujiki, Yukio

American journal of human genetics, 2000-10, Vol.67 (4), p.976-981 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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6
Mutations in Novel Peroxin Gene PEX26 That Cause Peroxisome-Biogenesis Disorders of Complementation Group 8 Provide a Genotype-Phenotype Correlation
Mutations in Novel Peroxin Gene PEX26 That Cause Peroxisome-Biogenesis Disorders of Complementation Group 8 Provide a Genotype-Phenotype Correlation
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Mutations in Novel Peroxin Gene PEX26 That Cause Peroxisome-Biogenesis Disorders of Complementation Group 8 Provide a Genotype-Phenotype Correlation

Matsumoto, Naomi ; Tamura, Shigehiko ; Furuki, Satomi ; Miyata, Non ; Moser, Ann ; Shimozawa, Nobuyuki ; Moser, Hugo W. ; Suzuki, Yasuyuki ; Kondo, Naomi ; Fujiki, Yukio

American journal of human genetics, 2003-08, Vol.73 (2), p.233-246 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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7
Human peroxisome assembly factor-2 (PAF-2) : A gene responsible for group C peroxisome biogenesis disorder in humans
Human peroxisome assembly factor-2 (PAF-2) : A gene responsible for group C peroxisome biogenesis disorder in humans
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Human peroxisome assembly factor-2 (PAF-2) : A gene responsible for group C peroxisome biogenesis disorder in humans

FUKUDA, S ; SHIMOZAWA, N ; KUROKI, Y ; FUJIKI, Y ; ORII, T ; KONDO, N ; SUZUKI, Y ; ZHANG, Z ; TOMATSU, S ; TSUKAMOTO, T ; HASHIGUCHI, N ; OSUMI, T ; MASUNO, M ; IMAIZUMI, K

American journal of human genetics, 1996-12, Vol.59 (6), p.1210-1220 [Periódico revisado por pares]

Chicago, IL: University of Chicago Press

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8
d-3-Hydroxyacyl-CoA Dehydratase/ d-3-Hydroxyacyl-CoA Dehydrogenase Bifunctional Protein Deficiency: A Newly Identified Peroxisomal Disorder
d-3-Hydroxyacyl-CoA Dehydratase/ d-3-Hydroxyacyl-CoA Dehydrogenase Bifunctional Protein Deficiency: A Newly Identified Peroxisomal Disorder
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d-3-Hydroxyacyl-CoA Dehydratase/ d-3-Hydroxyacyl-CoA Dehydrogenase Bifunctional Protein Deficiency: A Newly Identified Peroxisomal Disorder

Suzuki, Yasuyuki ; Jiang, Ling Ling ; Souri, Masayoshi ; Miyazawa, Shoko ; Fukuda, Seiji ; Zhang, Zhongyi ; Une, Mizuho ; Shimozawa, Nobuyuki ; Kondo, Naomi ; Orii, Tadao ; Hashimoto, Takashi

American journal of human genetics, 1997-11, Vol.61 (5), p.1153-1162 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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9
Peroxisomal Bifunctional Protein Deficiency Revisited: Resolution of Its True Enzymatic and Molecular Basis
Peroxisomal Bifunctional Protein Deficiency Revisited: Resolution of Its True Enzymatic and Molecular Basis
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Peroxisomal Bifunctional Protein Deficiency Revisited: Resolution of Its True Enzymatic and Molecular Basis

van Grunsven, E.G. ; van Berkel, E. ; Mooijer, P.A.W. ; Watkins, P.A. ; Moser, H.W. ; Suzuki, Y. ; Jiang, L.L. ; Hashimoto, T. ; Hoefler, G. ; Adamski, J. ; Wanders, R.J.A.

American journal of human genetics, 1999, Vol.64 (1), p.99-107 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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10
Human β-galactosidase gene mutations in GM1-gangliosidosis : a common mutation among japanese adult/chronic cases
Human β-galactosidase gene mutations in GM1-gangliosidosis : a common mutation among japanese adult/chronic cases
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Human β-galactosidase gene mutations in GM1-gangliosidosis : a common mutation among japanese adult/chronic cases

YOSHIDA, K ; OSHIMA, A ; SHIMMOTO, M ; FUKUHARA, Y ; SAKURABA, H ; YANAGISAWA, N ; SUZUKI, Y

American journal of human genetics, 1991-08, Vol.49 (2), p.435-442 [Periódico revisado por pares]

Chicago, IL: University of Chicago Press

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