Advances in Inborn Errors of Metabolism

Contents

• Advances in inborn errors of metabolism

  • Toshiyuki Fukao
  • Kimitoshi Nakamura

  Editorial25 Jan 2019 Journal of Human Genetics
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  Tetrahydrobipterin-responsive phenylalanine hydroxylase deficiency

  • Shigeo Kure
  • Haruo Shintaku

  Review Article30 Nov 2018 Journal of Human Genetics
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  Management and diagnosis of mitochondrial fatty acid oxidation disorders: focus on very-long-chain acyl-CoA dehydrogenase deficiency

  • Kenji Yamada
  • Takeshi Taketani

  Review Article6 Nov 2018 Journal of Human Genetics
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  Carnitine palmitoyltransferase II deficiency with a focus on newborn screening

  • Go Tajima
  • Keiichi Hara
  • Miori Yuasa

  Review Article4 Dec 2018 Journal of Human Genetics
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  Recent advances in understanding beta-ketothiolase (mitochondrial acetoacetyl-CoA thiolase, T2) deficiency

  • Toshiyuki Fukao
  • Hideo Sasai
  • Elsayed Abdelkreem

  Review Article5 Nov 2018 Journal of Human Genetics
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  Recent topics: the diagnosis, molecular genesis, and treatment of mitochondrial diseases

  • Kei Murayama
  • Masaru Shimura
  • Akira Ohtake

  Review Article21 Nov 2018 Journal of Human Genetics
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  Recent trends in mucopolysaccharidosis research

  • Hiroshi Kobayashi

  Review Article19 Nov 2018 Journal of Human Genetics

• Gene therapy for lysosomal storage diseases and peroxisomal diseases

  • Toya Ohashi

  Review Article29 Nov 2018 Journal of Human Genetics
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  Expanding the concept of peroxisomal diseases and efficient diagnostic system in Japan

  • Shigeo Takashima
  • Hirotomo Saitsu
  • Nobuyuki Shimozawa

  Review Article20 Sep 2018 Journal of Human Genetics