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Results 1 - 10 of 25  for Everything in this catalogue

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Gaucher Disease

Okuyama, Torayuki

: Brain and nerve -- Igaku Shoin -- Volume: 67 Part: 9; (pages 1109-1114) -- 2015

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Quantification of enzyme activities of lysosomal disorders in a neonatal population using mass spectrometry

Mashima, Ryuichi; Okuyama, Torayuki

Molecular genetics and metabolism. Volume 123:Number 2 (2018, February); pp S92-

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Quantification of 11-plex LSD enzyme activity using liquid chromatography-tandem mass spectrometry

Mashima, Ryuichi; Ohira, Mari; Okuyama, Torayuki

Molecular genetics and metabolism. Volume 126:Number 2 (2019, February); pp S98-

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Survey of second‐trimester maternal serum screening in Japan

Okuyama, Torayuki; Yotsumoto, Junko; Funato, Yumi

The Journal of obstetrics and gynaecology research. Volume 39:Issue 5 (2013, May); pp 942-947 -- [Blackwell Science Asia]

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Enzyme replacement therapy attenuates disease progression in two Japanese siblings with mucopolysaccharidosis type VI: 10-year follow up (case report)

Furujo, Mahoko; Kosuga, Motomichi; Okuyama, Torayuki

Molecular genetics and metabolism. Volume 123:Number 2 (2018, February); pp S48-S49

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Novel blood-brain barrier delivery system to treat CNS in MPS II: First clinical trial of anti-transferrin receptor antibody fused enzyme therapy

Okuyama, Torayuki et al.

Molecular genetics and metabolism. Volume 123:Number 2 (2018, February); pp S109-

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Enzyme activities of six lysosomal diseases in a Japanese neonatal population

Mashima, Ryuichi et al.

Molecular genetics and metabolism. Volume 120:Issue 1/2 (2017); pp S92-

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Investigator-initiated clinical trial of intra-cerebroventricular enzyme replacement therapy for neuronopathic mucopolysaccharidosis type II

Okuyama, Torayuki et al.

Molecular genetics and metabolism. Volume 123:Number 2 (2018, February); pp S109-

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Aspartylglucosaminuria caused by a novel homozygous mutation in the AGA gene was identified by an exome-first approach in a patient from Japan

Yamamoto, Toshiyuki et al.

Brain & development. Volume 39:Issue 5 (2017); pp 422-425 -- Elsevier Science

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Juvenile-onset neuronal ceroid lipofuscinosis (CLN1) disease with a novel deletion and duplication in the PPT1 gene

Ozono, Tatsuhiko et al.

Journal of the neurological sciences. Volume 388: (2018, May 15th); pp 4-6

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  1. Pediatrics--Periodicals  (3)
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  3. genotype‐phenotype--hurler syndrome--iduronidase--lysosomal storage disease--lysosome--metabolic disease--mucopolysaccharidosis--Scheie syndrome  (2)
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  14. Adenosine deaminase deficiency--Severe combined immunodeficiency--Enzyme replacement therapy--PEG-ADA--Stem cell gene therapy--Immune reconstitution  (1)
  15. Langerhans cell histiiocytosis (LCH)--V-raf murine sarcoma viral oncogene homolog B1 (BRAF)--Formalin-fixed paraffin-embedded (FFPE)--TspRI  (1)
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  19. arylsulfatase B--glycosaminoglycan--liver transplantation--lysosomal storage disorder--mucopolysaccharidosis VI  (1)
  20. Aspartylglucosaminuria (AGU)--Aspartylglucosaminidase (AGA)--Lysosomal storage disorder--Developmental regression--Exome sequencing--Matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF-MS)  (1)
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