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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
Phospho-Ser727 of STAT3 regulates STAT3 activity by enhancing dephosphorylation of phospho-Tyr705 largely through TC45.
- Published in:
- Genes to Cells, 2012, v. 17, n. 2, p. 132, doi. 10.1111/j.1365-2443.2011.01575.x
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- Publication type:
- Article
Transient Elastography-Based Liver Stiffness Age-Dependently Increases in Children.
- Published in:
- PLoS ONE, 2016, v. 11, n. 11, p. 1, doi. 10.1371/journal.pone.0166683
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- Article
Brain magnetic resonance imaging in 23 patients with mucopolysaccharidoses and the effect of bone marrow transplantation.
- Published in:
- 2001
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- Publication type:
- journal article
Guide for diagnosis and treatment of hyperphenylalaninemia.
- Published in:
- Pediatrics International, 2021, v. 63, n. 1, p. 8, doi. 10.1111/ped.14399
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- Publication type:
- Article
Glucocorticoids and erythropoietin in chronic lung disease of prematurity: Proliferative potential in lung fibroblast and epithelial cells exposed to tracheal aspirates.
- Published in:
- Pediatrics International, 2016, v. 58, n. 11, p. 1163, doi. 10.1111/ped.13009
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- Publication type:
- Article
Double pancreatic tumors in an adolescent: Imaging features.
- Published in:
- Pediatrics International, 2016, v. 58, n. 11, p. 1239, doi. 10.1111/ped.13142
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- Publication type:
- Article
Hepatic focal nodular hyperplasia with congenital portosystemic shunt.
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- Pediatrics International, 2014, v. 56, n. 6, p. e102, doi. 10.1111/ped.12456
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- Publication type:
- Article
Predictors of neurological outcome in cooled neonates.
- Published in:
- Pediatrics International, 2013, v. 55, n. 2, p. 169, doi. 10.1111/ped.12008
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- Publication type:
- Article
Attitude to extended use and long-term storage of newborn screening blood spots in Japan.
- Published in:
- Pediatrics International, 2010, v. 52, n. 3, p. 393, doi. 10.1111/j.1442-200X.2009.03018.x
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- Article
Neonatal listeriosis with severe respiratory failure responding to nitric oxide inhalation.
- Published in:
- Pediatrics International, 2000, v. 42, n. 6, p. 696, doi. 10.1046/j.1442-200x.2000.01291.x
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- Publication type:
- Article
Epidermal growth factor in tracheal aspirates of ventilated premature infants.
- Published in:
- Pediatrics International, 1996, v. 38, n. 6, p. 705, doi. 10.1111/j.1442-200X.1996.tb03738.x
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- Publication type:
- Article
Early Treatment of Inborn Errors of Biopterin Metabolism.
- Published in:
- Pediatrics International, 1988, v. 30, n. 4, p. 390, doi. 10.1111/j.1442-200X.1988.tb02527.x
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- Publication type:
- Article
Transient Neonatal Hyperphenylalaninemia due to Immature Development of 7, 8-Dihydrobiopterin Synthesis.
- Published in:
- Pediatrics International, 1984, v. 26, n. 4, p. 561, doi. 10.1111/j.1442-200X.1984.tb01863.x
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- Publication type:
- Article
Factors associated with basal insulin dose in Japanese children and young adult type 1 diabetics.
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- Journal of Diabetes Investigation, 2012, v. 3, n. 3, p. 276, doi. 10.1111/j.2040-1124.2011.00171.x
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- Publication type:
- Article
Clinical features of women with Turner syndrome experiencing transition period in Japan.
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- Endocrine Journal, 2017, v. 64, n. 5, p. 499, doi. 10.1507/endocrj.ej16-0370
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- Publication type:
- Article
Urinary metabolic profile of phenylketonuria in patients receiving total parenteral nutrition and medication.
- Published in:
- Rapid Communications in Mass Spectrometry: RCM, 2009, v. 23, n. 19, p. 3167, doi. 10.1002/rcm.4236
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- Publication type:
- Article
Current usage and effectiveness of influenza medications and factors regarding the time taken to alleviate fever based on postcard questionnaire survey.
- Published in:
- Journal of General & Family Medicine, 2017, v. 18, n. 6, p. 386, doi. 10.1002/jgf2.109
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- Publication type:
- Article
Detection of Spinal Muscular Atrophy Patients Using Dried Saliva Spots.
- Published in:
- Genes, 2021, v. 12, n. 10, p. 1621, doi. 10.3390/genes12101621
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- Publication type:
- Article
Early initiation of L-dopa therapy enables stable development of executive function in tetrahydrobiopterin (BH4) deficiency.
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- Developmental Medicine & Child Neurology, 2007, v. 49, n. 5, p. 372, doi. 10.1111/j.1469-8749.2007.00372.x
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- Article
Trophic effect of multiple growth factors in amniotic fluid or human milk on cultured human fetal small intestinal cells.
- Published in:
- 2002
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- Publication type:
- journal article
Commentary on the mutation spectrum of and founder effects affecting the PTS gene in East-Asian populations.
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- Journal of Human Genetics, 2012, v. 57, n. 3, p. 159, doi. 10.1038/jhg.2011.153
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- Publication type:
- Article
Molecular and clinical analyses of Japanese patients with carbamoylphosphate synthetase 1 (CPS1) deficiency.
- Published in:
- Journal of Human Genetics, 2007, v. 52, n. 4, p. 349, doi. 10.1007/s10038-007-0122-9
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- Publication type:
- Article
Molecular characterization of 6-pyruvoyl-tetrahydropterin synthase deficiency in Japanese patients.
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- Journal of Human Genetics, 1999, v. 44, n. 3, p. 163, doi. 10.1007/s100380050134
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- Publication type:
- Article
A Japanese Family with Central Hypothyroidism Caused by a Novel IGSF1 Mutation.
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- Thyroid, 2016, v. 26, n. 12, p. 1701, doi. 10.1089/thy.2016.0005
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- Publication type:
- Article
Dose-Dependent effect of intravenous administration of human Umbilical cord-Derived Mesenchymal stem cells in neonatal stroke Mice.
- Published in:
- Frontiers in Neurology, 2018, p. 1, doi. 10.3389/fneur.2018.00133
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- Publication type:
- Article
Molecular Imaging (PET and SPECT) for Children with Hypoxic-Ischemic-Encephalopathy and Cerebral Palsy Before and After Cell Therapy.
- Published in:
- Systematic Reviews in Pharmacy, 2022, v. 13, n. 6, p. 646, doi. 10.31858/0975-8453.13.6.646-654
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- Publication type:
- Article
Patency Capsule Tolerability in School-Aged Children.
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- Digestion, 2017, v. 96, n. 1, p. 46, doi. 10.1159/000477579
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- Publication type:
- Article
Molecular characterization of phenylketonuric mutations in Japanese by analysis of phenylalanine hydroxylase mRNA from lymphoblasts.
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 4, p. 659
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- Publication type:
- Article
Expression Analysis of the Aldo-Keto Reductases Involved in the Novel Biosynthetic Pathway of Tetrahydrobiopterin in Human and Mouse Tissues.
- Published in:
- Journal of Biochemistry, 2009, v. 146, n. 1, p. 51, doi. 10.1093/jb/mvp042
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- Publication type:
- Article
Disulfiram enhanced delivery of orally administered copper into the central nervous system in Menkes disease mouse model.
- Published in:
- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1285, doi. 10.1007/s10545-018-0239-3
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- Publication type:
- Article
Disulfiram enhanced delivery of orally administered copper into the central nervous system in Menkes disease mouse model.
- Published in:
- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1285, doi. 10.1007/s10545-018-0239-3
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- Publication type:
- Article
Newborn screening for mucopolysaccharidoses: a pilot study of measurement of glycosaminoglycans by tandem mass spectrometry.
- Published in:
- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 1, p. 151, doi. 10.1007/s10545-016-9981-6
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- Publication type:
- Article
Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency: Two pathogenic mutations, V133E and C456F, in Japanese siblings.
- Published in:
- Human Mutation, 1998, v. 12, n. 2, p. 83, doi. 10.1002/(SICI)1098-1004(1998)12:2<83::AID-HUMU2>3.0.CO;2-P
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- Publication type:
- Article
Frequency and distribution of phenylketonuric mutations in orientals.
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- Human Mutation, 1992, v. 1, n. 3, p. 216, doi. 10.1002/humu.1380010307
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- Publication type:
- Article
Histologic Chorioamnionitis, Amniotic Fluid Interleukin 6, Krebs von den Lungen 6, and Transforming Growth Factor β1 for the Development of Neonatal Bronchopulmonary Dysplasia.
- Published in:
- Japanese Clinical Medicine, 2017, n. 8, p. 1, doi. 10.1177/1179066017696076
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- Publication type:
- Article
PRENATAL DIAGNOSIS OF SUCCINYL-COENZYME A:3-KETOACID COENZYME A TRANSFERASE DEFICIENCY.
- Published in:
- Prenatal Diagnosis, 1996, v. 16, n. 5, p. 471, doi. 10.1002/(SICI)1097-0223(199605)16:5<471::AID-PD898>3.0.CO;2-E
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- Publication type:
- Article
Metabolomic analysis and mass spectrometry imaging after neonatal stroke and cell therapies in mouse brains.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-78930-x
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- Publication type:
- Article
Autologous cord blood cell therapy for neonatal hypoxic-ischaemic encephalopathy: a pilot study for feasibility and safety.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-61311-9
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- Publication type:
- Article
Connatal tuberculosis in an extremely low birth weight infant: case report and management of exposure to tuberculosis in a neonatal intensive care unit.
- Published in:
- 2001
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- Publication type:
- journal article
Periventricular heterotopia and white matter abnormalities in a girl with mosaic ring chromosome 6.
- Published in:
- Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0162-3
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- Publication type:
- Article
Autophagy in the Central Nervous System and Effects of Chloroquine in Mucopolysaccharidosis Type II Mice.
- Published in:
- International Journal of Molecular Sciences, 2019, v. 20, n. 23, p. 5829, doi. 10.3390/ijms20235829
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- Publication type:
- Article
The factors affecting on estimation of carbohydrate content of meals in carbohydrate counting.
- Published in:
- Clinical Pediatric Endocrinology, 2015, v. 24, n. 4, p. 153, doi. 10.1297/cpe.24.153
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- Publication type:
- Article
Plasma phenylalanine level in dopa-responsive dystonia.
- Published in:
- Movement Disorders, 2009, v. 24, n. 15, p. 2289, doi. 10.1002/mds.22774
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- Publication type:
- Article
Dopa-responsive dystonia (Segawa disease)-like disease accompanied by mental retardation: A case report.
- Published in:
- Movement Disorders, 2007, v. 22, n. 8, p. 1202, doi. 10.1002/mds.21517
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- Publication type:
- Article
A novel large deletion (exons 12, 13) and a missense mutation (p.G46R) in the PAH in a Japanese patient with phenylketonuria.
- Published in:
- World Journal of Pediatrics, 2015, v. 11, n. 2, p. 181, doi. 10.1007/s12519-015-0020-8
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- Publication type:
- Article
Transient Elastography-Based Liver Profiles in a Hospital-Based Pediatric Population in Japan.
- Published in:
- PLoS ONE, 2015, v. 10, n. 9, p. 1, doi. 10.1371/journal.pone.0137239
- By:
- Publication type:
- Article
PET Imaging Analysis with <sub>64</sub>Cu in Disulfiram Treatment for Aberrant Copper Biodistribution in Menkes Disease Mouse Model.
- Published in:
- Journal of Nuclear Medicine, 2014, v. 55, n. 5, p. 845, doi. 10.2967/jnumed.113.131797
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- Publication type:
- Article