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Masafumi Matsuo

Kobe University

24

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397

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A Family with Glucose-6-Phosphate Dehydrogenase deficiency Chatam mutation and malaria infection: A case report

2019
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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.

2013 Journal of Human Genetics
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Long-term outcome and intervention of urea cycle disorders in Japan

2012 Journal of Inherited Metabolic Disease
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Acid-base/Na, K, Cl. Experimental and clinical

2011 Ndt Plus
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A polymorphic mutation, c.-3279T > G, in the UGT1A1 promoter is a risk factor for neonatal jaundice in the Malay population.

2010 Pediatric Research
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Xanthoma disseminatum with intracranial involvement: case report and literature review

2010 International Journal of Dermatology
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Identification of N-acetyl Proline–Glycine–Proline (acPGP) in human serum of adults and newborns by liquid chromatography–tandem mass spectrometry

2009 Clinica Chimica Acta
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Blood Lysophosphatidylcholine (LPC) Levels and Characteristic Molecular Species in Neonates: Prolonged Low Blood LPC Levels in Very Low Birth Weight Infants

2007 Pediatric Research
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Ureaplasma urealyticum and Mycoplasma hominis presence in umbilical cord is associated with pathogenesis of funisitis.

2007 The Kobe journal of the medical sciences
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A novel mutation in KCNJ1 in a Bartter syndrome case diagnosed as pseudohypoaldosteronism

2007 Pediatric Nephrology
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Citations (12)