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Multiplex Real-Time PCR-Based Newborn Screening for Severe Primary Immunodeficiency and Spinal Muscular Atrophy in Osaka, Japan: Our Results after 3 Years.
- Published in:
- Genes, 2024, v. 15, n. 3, p. 314, doi. 10.3390/genes15030314
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- Publication type:
- Article
Very young children with Prader-Willi syndrome are refractory to growth hormone-associated decreases in free thyroxine levels.
- Published in:
- Endocrine Journal, 2023, v. 70, n. 5, p. 501, doi. 10.1507/endocrj.ej22-0509
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- Publication type:
- Article
Reductions in estimated glomerular filtration rate during puberty in GH-treated children born small for gestational age are associated with prematurity and low birth weight, not the dosage of GH treatment.
- Published in:
- Clinical Pediatric Endocrinology, 2023, v. 32, n. 2, p. 98, doi. 10.1297/cpe.2022-0081
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- Publication type:
- Article
Dosage of hydrocortisone during late infancy is positively associated with changes in body mass index during early childhood in patients with 21-hydroxylase deficiency.
- Published in:
- Endocrine Journal, 2023, v. 70, n. 3, p. 333, doi. 10.1507/endocrj.ej22-0466
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- Article
Evaluations for Wilms tumor and late‐onset nephrotic syndrome in 46,XY DSD.
- Published in:
- 2023
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- Publication type:
- Case Study
Clinical guidelines for the diagnosis and treatment of 21-hydroxylase deficiency (2021 revision).
- Published in:
- Clinical Pediatric Endocrinology, 2022, v. 31, n. 3, p. 116, doi. 10.1297/cpe.2022-0009
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- Publication type:
- Article
Histological analysis of testes in patients with 5 alphareductase deficiency type 2: Comparison with cryptorchid testes in patients without endocrinological abnormalities and a review of the literature.
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- Clinical Pediatric Endocrinology, 2022, v. 31, n. 3, p. 144, doi. 10.1297/cpe.2022-0025
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- Publication type:
- Article
Subcutaneous adipose tissue is a positive predictor for bone mineral density in prepubertal children with Prader–Willi syndrome independent of lean mass.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2022, v. 35, n. 5, p. 603, doi. 10.1515/jpem-2021-0749
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- Publication type:
- Article
Circulating insulin‐like growth factor 1 levels are reduced in very young children with Prader–Willi syndrome independent of anthropometric parameters and nutritional status.
- Published in:
- Clinical Endocrinology, 2022, v. 96, n. 3, p. 346, doi. 10.1111/cen.14635
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- Publication type:
- Article
Current status of transition medicine for 21-hydroxylase deficiency in Japan: from the perspective of pediatric endocrinologists.
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- Endocrine Journal, 2022, v. 69, n. 1, p. 75, doi. 10.1507/endocrj.ej21-0292
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- Publication type:
- Article
Spinal Muscular Atrophy: Diagnosis, Incidence, and Newborn Screening in Japan.
- Published in:
- International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 3, p. 1, doi. 10.3390/ijns7030045
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- Publication type:
- Article
Diagnostic Pitfall: Mosaic Turner syndrome with a 46, XY lymphocyte karyotype.
- Published in:
- 2021
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- Publication type:
- Case Study
Renal function in short‐statured children born small for gestational age and treated with growth hormone.
- Published in:
- Pediatrics International, 2021, v. 63, n. 7, p. 775, doi. 10.1111/ped.14514
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- Publication type:
- Article
Development of an efficient one-step real-time reverse transcription polymerase chain reaction method for severe acute respiratory syndrome-coronavirus-2 detection.
- Published in:
- PLoS ONE, 2021, v. 16, n. 6, p. 1, doi. 10.1371/journal.pone.0252789
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- Publication type:
- Article
A Multicenter Prospective Survey on Early-Onset Inflammatory Bowel Disease in Japan.
- Published in:
- Digestion, 2021, v. 102, n. 3, p. 368, doi. 10.1159/000507570
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- Publication type:
- Article
Male assignment in 5α‐reductase type 2 deficiency with female external genitalia.
- Published in:
- Pediatrics International, 2021, v. 63, n. 5, p. 592, doi. 10.1111/ped.14447
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- Publication type:
- Article
Central hypothyroidism improves with age in very young children with Prader‐Willi syndrome.
- Published in:
- Clinical Endocrinology, 2021, v. 94, n. 3, p. 384, doi. 10.1111/cen.14323
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- Publication type:
- Article
Growth hormone treatment for extremely low birthweight children born small for gestational age.
- Published in:
- Pediatrics International, 2021, v. 63, n. 1, p. 46, doi. 10.1111/ped.14363
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- Publication type:
- Article
The updated JSPGHAN guidelines for the management of Helicobacter pylori infection in childhood.
- Published in:
- Pediatrics International, 2020, v. 62, n. 12, p. 1315, doi. 10.1111/ped.14388
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- Publication type:
- Article
Fat distribution in short‐stature children born small for gestational age.
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- Pediatrics International, 2020, v. 62, n. 12, p. 1351, doi. 10.1111/ped.14337
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- Publication type:
- Article
Clinical Features of 57 Patients with Lipoid Congenital Adrenal Hyperplasia: Criteria for Nonclassic Form Revisited.
- Published in:
- 2020
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- Publication type:
- journal article
Visceral adipose tissue resides within the reference range in children with Prader-Willi syndrome receiving nutritional intervention on a regular basis.
- Published in:
- Endocrine Journal, 2020, v. 67, n. 10, p. 1029, doi. 10.1507/endocrj.ej19-0489
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- Publication type:
- Article
Effects of Zinc Acetate on Serum Zinc Concentrations in Chronic Liver Diseases: a Multicenter, Double-Blind, Randomized, Placebo-Controlled Trial and a Dose Adjustment Trial.
- Published in:
- Biological Trace Element Research, 2020, v. 195, n. 1, p. 71, doi. 10.1007/s12011-019-01851-y
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- Publication type:
- Article
MIRAGE syndrome caused by a novel missense variant (p.Ala1479Ser) in the SAMD9 gene.
- Published in:
- Human Genome Variation, 2020, v. 7, n. 1, p. 1, doi. 10.1038/s41439-020-0091-5
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- Publication type:
- Article
Policy statement of enteral nutrition for preterm and very low birthweight infants.
- Published in:
- Pediatrics International, 2020, v. 62, n. 2, p. 124, doi. 10.1111/ped.14067
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- Publication type:
- Article
Genotype-phenotype correlation analysis in Japanese patients with Noonan syndrome.
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- Endocrine Journal, 2019, v. 66, n. 11, p. 983, doi. 10.1507/endocrj.ej18-0564
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- Publication type:
- Article
Present status of prophylactic thyroidectomy in pediatric multiple endocrine neoplasia 2: a nationwide survey in Japan 1997–2017.
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- Journal of Pediatric Endocrinology & Metabolism, 2019, v. 32, n. 6, p. 585, doi. 10.1515/jpem-2018-0444
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- Publication type:
- Article
Gonadal function and testicular histology in males with Prader‐Willi syndrome.
- Published in:
- Endocrinology, Diabetes & Metabolism, 2019, v. 2, n. 1, p. N.PAG, doi. 10.1002/edm2.49
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- Publication type:
- Article
Oral esomeprazole in Japanese pediatric patients with gastric acid‐related disease: Safety, efficacy, and pharmacokinetics.
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- Pediatrics International, 2019, v. 61, n. 1, p. 87, doi. 10.1111/ped.13733
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- Publication type:
- Article
Visceral adipose tissue increases shortly after the cessation of GH therapy in adults with Prader-Willi syndrome.
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- Endocrine Journal, 2018, v. 65, n. 11, p. 1127, doi. 10.1507/endocrj.ej18-0107
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- Publication type:
- Article
Parental awareness of young children's pattern of ionic beverage consumption.
- Published in:
- Pediatrics International, 2018, v. 60, n. 10, p. 969, doi. 10.1111/ped.13666
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- Publication type:
- Article
Shwachman–Diamond syndrome: Nationwide survey and systematic review in Japan.
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- Pediatrics International, 2018, v. 60, n. 8, p. 719, doi. 10.1111/ped.13601
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- Publication type:
- Article
Attitudes of pediatricians toward Children's consumption of ionic beverages.
- Published in:
- 2018
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- Publication type:
- journal article
Thyroid hormone status in patients with severe selenium deficiency.
- Published in:
- Clinical Pediatric Endocrinology, 2018, v. 27, n. 2, p. 67, doi. 10.1297/cpe.27.67
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- Publication type:
- Article
Three patients with Schaaf–Yang syndrome exhibiting arthrogryposis and endocrinological abnormalities.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 3, p. 707, doi. 10.1002/ajmg.a.38606
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- Publication type:
- Article
Next generation sequencing-based mutation screening of 86 patients with idiopathic short stature.
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- Endocrine Journal, 2017, v. 64, n. 10, p. 947, doi. 10.1507/endocrj.ej17-0150
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- Publication type:
- Article
Clinical practice guidelines for congenital hyperinsulinism.
- Published in:
- Clinical Pediatric Endocrinology, 2017, v. 26, n. 3, p. 127
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- Publication type:
- Article
Endoscopic findings of esophagogastric junction in children.
- Published in:
- Digestive Endoscopy, 2017, v. 29, p. 11, doi. 10.1111/den.12793
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- Publication type:
- Article
Endoscopic findings of esophagogastric junction in children.
- Published in:
- Digestive Endoscopy, 2017, v. 29, p. 11, doi. 10.1111/den.12793
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- Publication type:
- Article
Endocrine status of patients with septo-optic dysplasia: fourteen Japanese cases.
- Published in:
- Clinical Pediatric Endocrinology, 2017, v. 26, n. 2, p. 89, doi. 10.1297/cpe.26.89
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- Publication type:
- Article
Further evidence of a mutation in CDC42 as a cause of a recognizable syndromic form of thrombocytopenia.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 852, doi. 10.1002/ajmg.a.37526
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- Publication type:
- Article
Esophago-gastric motility and nutritional management in a child with ATR- X syndrome.
- Published in:
- Pediatrics International, 2014, v. 56, n. 4, p. e48, doi. 10.1111/ped.12402
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- Publication type:
- Article
Tumors of Bilateral Streak Gonads in Patients with Disorders of Sex Development Containing Y Chromosome Material.
- Published in:
- Clinical Pediatric Endocrinology, 2014, v. 23, n. 3, p. 93, doi. 10.1297/cpe.23.93
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- Publication type:
- Article
Endocrinological Characteristics of 25 Japanese Patients with CHARGE Syndrome.
- Published in:
- Clinical Pediatric Endocrinology, 2014, v. 23, n. 2, p. 45, doi. 10.1297/cpe.23.45
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- Publication type:
- Article
Impact of cow's milk allergy on enterocolitis associated with Hirschsprung's disease.
- Published in:
- Pediatric Surgery International, 2013, v. 29, n. 11, p. 1159, doi. 10.1007/s00383-013-3379-4
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- Publication type:
- Article
Cryptic Genomic Rearrangements in Three Patients with 46,XY Disorders of Sex Development.
- Published in:
- PLoS ONE, 2013, v. 8, n. 7, p. 1, doi. 10.1371/journal.pone.0068194
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- Publication type:
- Article
Characteristics of inflammatory bowel disease with an onset before eight years of age: A multicenter epidemiological survey in Japan.
- Published in:
- Journal of Gastroenterology & Hepatology, 2013, v. 28, n. 3, p. 499, doi. 10.1111/jgh.12071
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- Publication type:
- Article
Resting energy expenditure in short-stature children.
- Published in:
- Endocrine Journal, 2012, v. 59, n. 3, p. 265, doi. 10.1507/endocrj.ej11-0138
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- Publication type:
- Article
Acquired Cryptorchidism in a Boy with Disorder of Sex Development.
- Published in:
- Clinical Pediatric Endocrinology, 2012, v. 21, n. 1, p. 1, doi. 10.1297/cpe.21.1
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- Publication type:
- Article
Efficacy of pegylated interferon-α2a monotherapy in Japanese children with chronic hepatitis C.
- Published in:
- Hepatology Research, 2011, v. 41, n. 5, p. 399, doi. 10.1111/j.1872-034X.2011.00789.x
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- Publication type:
- Article