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Prenatal diagnosis of hypochondrogenesis using fetal MRI: a case report
Abstract. We describe the successful prenatal diagnosis of hypochondrogenesis by MRI. Fetal MR findings were the presence of a conspicuous cartilaginous structure in the basioccipital region,Expand
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Impact of leptin and leptin‐receptor gene polymorphisms on serum lipids in Japanese obese children
Aim:  Leptin is one of the factors affecting serum lipid profile. We investigated the association between serum lipids and leptin/leptin receptor (LEPR) gene polymorphisms in obese Japanese children.
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Association of low‐density lipoprotein particle size distribution and cardiovascular risk factors in children
Aim: The objective of this study was to investigate whether the presence of small, dense lipoproteins, which are thought to be related to the metabolic syndrome caused by insulin resistance, can beExpand
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Cerebro-oculo-facio-skeletal syndrome.
Cerebro-oculo-facio-skeletal (COFS) syndrome is an autosomal recessive inherited disorder characterized by congenital microcephaly, congenital cataracts and/or microphthalmia, arthrogryposis, severeExpand
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Urinary neutrophil gelatinase-associated lipocalin is an early predictor of acute kidney injury in premature infants
Urinary neutrophil gelatinase-associated lipocalin (uNGAL) is produced in response to tubular epithelial injury and is a biomarker of tubulointerstitial injury. The aim of the present study was toExpand
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Glomerulonephritis in a patient with chronic active Epstein-Barr virus infection
Renal involvement is rare in chronic active Epstein-Barr virus (EBV) infection. We report an 11-year-old girl who had focal mesangial proliferative glomerulonephritis with cellular crescents andExpand
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Case of incidentally diagnosed vitamin D deficiency rickets: A review of literature from Japan and a proposal for reintroduction of vitamin D2
Recent research in rickets in Japan has focused on hereditary rickets, that is, X-linked hypophosphatemic vitamin D resistant rickets 1 or vitamin D-dependent rickets. 2 It was speculated that theExpand
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Investigation of serum bile acids; seven patients with Alagille syndrome
To clarify whether an abnormal bile acid pattern has a role in the pathogenesis of Alagille syndrome, we compared serum bile acid patterns in seven with Alagille syndrome with those of patients withExpand
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Increase in bone density during testosterone therapy in adolescent hypogonadism
Sir: Abundant evidence links decreased bone density with oestrogen-deficient status in women, and increases in bone density have been noted after oestrogen therapy [7]. Osteopenia in maleExpand
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