Search results for: Jun Miyahara

Items from 1 to 4 out of 4 results

article

Mannosyl‐oligosaccharide glucosidase – congenital disorder of glycosylation: A patient with novel variants

Mikito Ota, Jun Miyahara, Ayumi Itano, Hiroshi Sugiura, more

Pediatrics International > 62 > 3 > 417 - 418

article

Survival of a very low‐birthweight infant with Potter sequence on long‐term hemodialysis

Jun Miyahara, Masaki Yamamoto, Kyoko Motoshige, Naoya Fujita, more

Pediatrics International > 58 > 7 > 604 - 606

Recent advances in neonatal cardiorespiratory management and neonatal renal replacement therapy have led to occasional reports of favorable short‐term and long‐term outcomes for Potter sequence, once thought to be fatal. The present patient was a girl born at a gestational age of 34 weeks 4 days with a birthweight of 1398 g. She was diagnosed with Potter sequence complicated by pulmonary hypoplasia...

article

A novel PLP mutation in a Japanese patient with mild Pelizaeus-Merzbacher disease

Tetsuya Kibe, Jun Miyahara, Kenji Yokochi, Akiko Iwaki

Brain and Development > 2009 > 31 > 3 > 248-251

Pelizaeus-Merzbacher disease (PMD) is a rare dysmyelinating disorder due to mutations in the proteolipid protein (PLP) gene. PLP gene mutations are responsible for a broad spectrum of disease, from the most severe form, connatal PMD, to a less severe form, spastic paraplegia 2 (SPG2). We describe here a very mild case of PMD in a patient who presented with nystagmus in early infancy and was unable...

article

A case of primary biliary cirrhosis accompanied with fibrinogen storage disease

Hiroko Mitsui, Eisaku Miyauchi, Jun Miyahara, Kiriko Wada, more

Pathology - Research and Practice > 2005 > 201 > 4 > 341-345

We report the first case of primary biliary cirrhosis (PBC) accompanied by fibrinogen storage disease (FSD). A 50-year-old Japanese woman had been treated for numbness of her right-side extremities for 5 years. Mildly elevated serum levels of alkaline phosphatase and γ-glutamyl transferase were detected. The titers of both anti-mitochondrial (×320) and anti-mitochondrial M2 (×84) antibodies were elevated...

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Keywords

CONGENITAL DISORDER OF GLYCOSYLATION (1)
DIALYSIS (1)
FIBRINOGEN STORAGE DISEASE (1)
HEAT SHOCK PROTEIN 70 (1)
INFANT (1)
MILD PHENOTYPE (1)
MOGS (1)
NOVEL PLP POINT MUTATION (1)
PELIZAEUS-MERZBACHER DISEASE (1)
POTTER SYNDROME (1)
PRIMARY BILIARY CIRRHOSIS (1)
UBIQUITIN (1)
VERY LOW‐BIRTHWEIGHT (1)
WHOLE EXOME SEQUENCING (1)
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Elsevier (2)
Wiley (2)

INFONA - science communication portal

Search results for: Jun Miyahara

Mannosyl‐oligosaccharide glucosidase – congenital disorder of glycosylation: A patient with novel variants

Survival of a very low‐birthweight infant with Potter sequence on long‐term hemodialysis

A novel PLP mutation in a Japanese patient with mild Pelizaeus-Merzbacher disease

A case of primary biliary cirrhosis accompanied with fibrinogen storage disease

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INFONA - science communication portal

Search results for: Jun Miyahara

Mannosyl‐oligosaccharide glucosidase – congenital disorder of glycosylation: A patient with novel variants

Survival of a very low‐birthweight infant with Potter sequence on long‐term hemodialysis

A novel PLP mutation in a Japanese patient with mild Pelizaeus-Merzbacher disease

A case of primary biliary cirrhosis accompanied with fibrinogen storage disease

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