Maple Syrup Urine Disease : from the Clinics to the Lab and back to the Clinics

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概要

• 論文の詳細を見る
• 2005-11-05

著者

• MATSUO Masafumi

  Department of Pediatrics, Graduate School of Medicine, Kobe University

• Padilla Carmencita

  Institute Of Human Genetics National Institutes Of Health Philippines

• Matsuo Masafumi

  Department Of Pediatrics Graduate School Of Medicine Kobe University

• Matsuo Masafumi

  Department Of Pediatrics Kobe University Graduate School Of Medicine

• Silao Catherine

  Institute Of Human Genetics National Institutes Of Health Philippines

• Silao Catherine

  Institute Of Human Genetics National Institutes Of Health Philippines University Of The Philippines

• Padilla Carmencita

  Institute Of Human Genetics National Institutes Of Health Philippines University Of The Philippines

• MATSUO Masafumi

  Department of Pediatrics, Kobe University Graduate School of Medicine

• MATSUO Masafumi

  Department of Medical Rehabilitation, Faculty of Rehabilitation, Kobegakuin University

関連論文

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• A 2-bp deletion in exon 74 of the dystrophin gene does not clearly induce muscle weakness
• Effects of Polymorphisms of MDR1, MRP1, and MRP2 Genes on Their mRNA Expression Levels in Duodenal Enterocytes of Healthy Japanese Subjects(Biopharmacy)
• HnRNP C1/C2 May Regulate Exon 7 Splicing in the Spinal Muscular Atrophy Gene SMN1
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• Tandem duplications of two separate fragments of the dystrophin gene in a patient with Duchenne muscular dystrophy
• Ureaplasma urealyticum and Mycoplasma hominis Presence in Umbilical Cord is Associated with Pathogenesis of Funisitis
• Mutation Analysis of the Ornithine Transcarbamylase (OTC) Gene in Five Japanese OTC Deficiency Patients Revealed Two Known and Three Novel Mutations Including a Deep Intronic Mutation
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• PCRを応用したメープルシロップ尿症の出生早期診断
• A simple explanation for a case of incompatibility with the reading frame theory in Duchenne muscular dystrophy: failure to detect an aberrant restriction fragment in Southern blot analysis
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• Maple Syrup Urine Disease : from the Clinics to the Lab and back to the Clinics
• Poor correlation between hemolysis and jaundice in glucose 6-phosphate dehydrogenase-deficient babies
• PDGF-alpha Receptor Expression Following Hypoxic-Ischemic Injury in the Neonatal Rat Brain
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• Intraperitoneal administration of phosphorothioate antisense oligodeoxynucleotide against splicing enhancer sequence induced exon skipping in dystrophin mRNA expressed in mdx skeletal muscle
• Molecular Analysis of TSC2/PKD1 Contiguous Gene Deletion Syndrome
• A novel approach to identify Duchenne muscular dystrophy patients for aminoglycoside antibiotics therapy
• Severe Alport syndrome in a young woman caused by a t(X;1)(q22.3;p36.32) balanced translocation
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• Contemporary retrotransposition of a novel non-coding gene induces exon-skipping in dystrophin mRNA
• Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center
• Insertion of the IL1RAPL1 gene into the duplication junction of the dystrophin gene
• Valproic acid increases SMN2 expression and modulates SF2/ASF and hnRNPA1 expression in SMA fibroblast cell lines
• A Homozygous Mutation in UGT1A1 Exon 5 May Be Responsible for Persistent Hyperbilirubinemia in a Japanese Girl with Gilbert's Syndrome
• Utility of Multiplex PCR in Detecting the Causative Pathogens for Pediatric Febrile Neutropenia
• Place of Death of Pediatric Cancer Patients in a Single Institute during 7 Years
• Molecular Analysis of TSC2/PKD1 Contiguous Gene Deletion Syndrome
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• Challenges of supplementary treatment for neurodegenerative diseases
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• Molecular characterization of an X(p21.2;q28) chromosomal inversion in a Duchenne muscular dystrophy patient with mental retardation reveals a novel long non-coding gene on Xq28

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