A. Tanaka

发表

Identifying the need for a multidisciplinary approach for early recognition of mucopolysaccharidosis VI (MPS VI).

T. Okuyama, M. Kosuga, S. Balasubramaniam, 2015, Molecular genetics and metabolism.

Mutations in the XPD gene leading to xeroderma pigmentosum symptoms

Y. Nakatsu, I. Kuraoka, Kiyoji Tanaka, 1997, Human mutation.

Targeted gene therapy toward astrocytoma using a Cre/loxP-based adenovirus system

N. Ohba, M. Maeda, H. Kiyama, 2006, Brain Research.

Long-term efficacy of hematopoietic stem cell transplantation on brain involvement in patients with mucopolysaccharidosis type II: a nationwide survey in Japan.

S. Adachi, Yasuyuki Suzuki, H. Mugishima, 2012, Molecular genetics and metabolism.

A multicenter, open-label extension study of velaglucerase alfa in Japanese patients with Gaucher disease: Results after a cumulative treatment period of 24months.

T. Hongo, K. Murayama, H. Ida, 2016, Blood cells, molecules & diseases.

Clinical course of sly syndrome (mucopolysaccharidosis type VII)

W. Sly, B. Graham, K. White, 2016, Journal of Medical Genetics.

Activity of daily living for Morquio A syndrome.

T. Rahman, T. Shimada, T. Shaffer, 2016, Molecular genetics and metabolism.

Overcoming the barriers to diagnosis of Morquio A syndrome

T. Okuyama, M. Kosuga, S. Balasubramaniam, 2014, Orphanet Journal of Rare Diseases.

Intracerebral cell transplantation therapy for murine GM1 gangliosidosis

K. Higaki, J. Matsuda, M. Maeda, 2009, Brain and Development.

Hematopoietic stem cell transplantation for Morquio A syndrome.

Yasuyuki Suzuki, S. Kato, H. Shintaku, 2016, Molecular genetics and metabolism.

Long‐term effects of bone marrow transplantation for inborn errors of metabolism: A study of four patients with lysosomal storage diseases

M. Kikuchi, K. Narisawa, K. Haginoya, 1994, Acta paediatrica Japonica : Overseas edition.

Transient Elastography-Based Liver Profiles in a Hospital-Based Pediatric Population in Japan

N. Kawada, T. Kawamura, Masakazu Hirose, 2015, PloS one.

[Acid lipase deficiency (Wolman disease and cholesteryl ester storage disease: CESD)].

A. Tanaka, 1998, Ryoikibetsu shokogun shirizu.

[Acid lipase deficiency: Wolman disease and cholesteryl ester storage disease].

A. Tanaka, 1995, Nihon rinsho. Japanese journal of clinical medicine.

NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C

K. Higaki, E. Nanba, T. Takeshima, 1999, Human Genetics.

Fabry disease female proband with clinical manifestations similar to hypertrophic cardiomyopathy.

J. Yoshikawa, A. Tanaka, T. Yamano, 2004, Japanese heart journal.

Japan Elaprase Treatment (JET) study: idursulfase enzyme replacement therapy in adult patients with attenuated Hunter syndrome (Mucopolysaccharidosis II, MPS II).

Y. Eto, Yasuyuki Suzuki, T. Okuyama, 2010, Molecular genetics and metabolism.

Brain magnetic resonance imaging in 23 patients with mucopolysaccharidoses and the effect of bone marrow transplantation

K. Kono, H. Shintaku, Y. Inoue, 2001, Annals of neurology.

Non-invasive high-risk screening for Fabry disease hemizygotes and heterozygotes

Y. Eto, T. Kitagawa, T. Ohashi, 2008, Pediatric Nephrology.

Non-invasive screening method for Fabry disease by measuring globotriaosylceramide in whole urine samples using tandem mass spectrometry.

K. Mills, Y. Eto, T. Kitagawa, 2005, Molecular genetics and metabolism.

Enzyme replacement therapy in a patient with Fabry disease and the development of IgE antibodies against agalsidase beta but not agalsidase alpha

A. Tanaka, T. Yamano, K. Fukai, 2010, Journal of Inherited Metabolic Disease.

Impact of enzyme replacement therapy and hematopoietic stem cell therapy on growth in patients with Hunter syndrome

T. Shimada, Yasuyuki Suzuki, T. Fukao, 2014, Molecular genetics and metabolism reports.

Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype–phenotype correlation

K. Ozono, N. Okamoto, T. Fukao, 2009, Journal of Human Genetics.

Chapter 8 Enzyme Replacement Therapy for Lysosomal Storage Diseases

Carvalho, G. Węgrzyn, R. Giugliani, 2011 .

Pediatric case report: Clinical profile of a patient with PCWH with p.Q377X nonsense mutation in the SOX10 gene

M. Ishii, Tamio Suzuki, K. Yamanishi, 2012, The Journal of dermatology.

Therapies for the bone in mucopolysaccharidoses.

Hiromasa Yabe, Roberto Giugliani, William Mackenzie, 2015, Molecular genetics and metabolism.

Current diagnosis and management of mucopolysaccharidosis VI in the Asia-Pacific region.

W. Hwu, Xuefan Gu, T. Okuyama, 2012, Molecular genetics and metabolism.

Farber's lipogranulomatosis in siblings: light and electron microscopic studies

M. Ishii, T. Hamada, A. Tanaka, 1989, The British journal of dermatology.

Molecular and structural studies of the GM2 gangliosidosis 0 variant

H. Doi, H. Yamada, E. Uyama, 2002, Journal of Human Genetics.

Cutaneous ultrastructural diagnosis of ceroid‐lipofuscinosis

M. Ishii, A. Tanaka, Kuniaki Takahashi, 1981, The British journal of dermatology.

Vesicular acetylcholine transporter can be a morphological marker for the reinnervation to muscle of regenerating motor axons

N. Ohba, S. Kiryu-Seo, M. Maeda, 2004, Neuroscience Research.

Structural basis of the GM2 gangliosidosis B variant

H. Doi, H. Sakuraba, A. Tanaka, 2003, Journal of Human Genetics.

Different attenuated phenotypes of GM2 gangliosidosis variant B in Japanese patients with HEXA mutations at codon 499, and five novel mutations responsible for infantile acute form

L. Hoàng, M. Oka, A. Tanaka, 2003, Journal of Human Genetics.

Novel mutations, including the second most common in Japan, in the β-hexosaminidase α subunit gene, and a simple screening of Japanese patients with Tay-Sachs disease

G. Isshiki, A. Tanaka, K. Choeh, 1999, Journal of Human Genetics.

[Wolman disease and cholesteryl ester storage disease].

A. Tanaka, 2001, Nihon rinsho. Japanese journal of clinical medicine.

The Major Mutation Among Japanese Patients with Infantile Tay-Sachs Disease: A G-to-T Transversion at the Acceptor Site of Intron 5 of the β-Hexosaminidase α-Gene

G. Isshiki, H. Sakuraba, K. Suzuki, 1993 .

The major mutation among Japanese patients with infantile Tay-Sachs disease: a G-to-T transversion at the acceptor site of intron 5 of the beta-hexosaminidase alpha gene.

G. Isshiki, H. Sakuraba, K. Suzuki, 1993, Biochemical and biophysical research communications.

MR imaging of the brain in patients with mucopolysaccharidosis.

A. Tanaka, O. Matsuoka, R. Murata, 1989, AJNR. American journal of neuroradiology.

Therapies for the bone in mucopolysaccharidoses.

W. Sly, R. Giugliani, Yasuyuki Suzuki, 2015, Molecular genetics and metabolism.

Molecular analysis of the α-N-acetylglucosaminidase gene in seven Japanese patients from six unrelated families with mucopolysaccharidosis IIIB (Sanfilippo type B), including two novel mutations

M. Kimura, A. Tanaka, N. Takaura, 2002, Journal of Human Genetics.

Keratan sulphate levels in mucopolysaccharidoses and mucolipidoses

T. Taketani, J. Grubb, R. Giugliani, 2005, Journal of Inherited Metabolic Disease.

Activities of daily living in patients with Hunter syndrome: impact of enzyme replacement therapy and hematopoietic stem cell transplantation.

Yasuyuki Suzuki, K. Orii, T. Fukao, 2015, Molecular genetics and metabolism.

Accommodation of foreign genes into the Sendai virus genome: sizes of inserted genes and viral replication

Y. Nagai, A. Kato, M. Asakawa, 1999, FEBS letters.

Safeguards against hazards of blood transfusion in the NICU.

A. Tanaka, S. Hirano, H. Sakamoto, 1988 .

The follow-up study of medical personnel with accidental exposures to HBV and NANBV.

A. Tanaka, H. Sakamoto, M. Nohara, 1989 .

Hematopoietic stem cell transplantation in Morquio syndrome type A

Yasuyuki Suzuki, S. Kato, Y. Chinen, 2016 .

Miscellaneous — Case Presentations

A. Carlo, H. Gollnick, M. Ishii, 1988 .

Novel mutations, including the second most common in Japan, in the beta-hexosaminidase alpha subunit gene, and a simple screening of Japanese patients with Tay-Sachs disease.

G. Isshiki, A. Tanaka, K. Choeh, 1999, Journal of human genetics.