Found: 13
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Antenatal Growth, Gestational Age, Birth, Enteral Feeding, and Blood Citrulline Levels in Very Low Birth Weight Infants.
- Published in:
- Nutrients, 2024, v. 16, n. 4, p. 476, doi. 10.3390/nu16040476
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- Article
Novel gene mutations in three Japanese patients with ARC syndrome associated mild phenotypes: a case series.
- Published in:
- 2022
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- Publication type:
- journal article
Adult-onset Type II Citrullinemia Developed under Dietary Restrictions during Imprisonment.
- Published in:
- Internal Medicine, 2024, v. 63, n. 6, p. 833, doi. 10.2169/internalmedicine.1954-23
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- Article
A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKTmTOR pathway-associated megalencephaly.
- Published in:
- BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-016-0363-6
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- Article
Molecular genetic and clinical delineation of 22 patients with congenital hypogonadotropic hypogonadism.
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- Journal of Pediatric Endocrinology & Metabolism, 2017, v. 30, n. 10, p. 1111, doi. 10.1515/jpem-2017-0035
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- Article
Urine bile acid profile of a Japanese patient with a bile acid amidation defect.
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- Pediatrics International, 2022, v. 64, n. 1, p. 1, doi. 10.1111/ped.15074
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- Article
Single nucleotide polymorphisms in AGTR1, TFAP2B, and TRAF1 are not associated with the incidence of patent ductus arteriosus in Japanese preterm infants.
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- Pediatrics International, 2016, v. 58, n. 6, p. 461, doi. 10.1111/ped.12861
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- Publication type:
- Article
Effects of 4-phenylbutyrate therapy in a preterm infant with cholestasis and liver fibrosis.
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- Pediatrics International, 2016, v. 58, n. 6, p. 506, doi. 10.1111/ped.12839
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- Article
Living donor liver transplantation for myocerebrohepatopathy spectrum due to POLG mutations.
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- Pediatric Transplantation, 2024, v. 28, n. 1, p. 1, doi. 10.1111/petr.14659
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- Article
Neurodevelopmental Outcomes at 18 Months' Corrected Age of Infants Born at 22 Weeks of Gestation.
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- Neonatology (16617800), 2011, v. 100, n. 3, p. 228, doi. 10.1159/000324715
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- Article
Combined genetic analyses can achieve efficient diagnostic yields for subjects with Alagille syndrome and incomplete Alagille syndrome.
- Published in:
- 2017
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- Publication type:
- journal article
Clinicopathologic Features, Genetics, Treatment, and Long-Term Outcomes in Japanese Children and Young Adults with Benign Recurrent Intrahepatic Cholestasis: A Multicenter Study.
- Published in:
- Journal of Clinical Medicine, 2023, v. 12, n. 18, p. 5979, doi. 10.3390/jcm12185979
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- Publication type:
- Article
Bile Acid Synthesis Disorders in Japan: Long-Term Outcome and Chenodeoxycholic Acid Treatment.
- Published in:
- Digestive Diseases & Sciences, 2021, v. 66, n. 11, p. 3885, doi. 10.1007/s10620-020-06722-4
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- Publication type:
- Article