Found: 53
Select item for more details and to access through your institution.
Procalcitonin is associated with postnatal respiratory condition severity in preterm neonate.
- Published in:
- Pediatric Pulmonology, 2022, v. 57, n. 5, p. 1272, doi. 10.1002/ppul.25846
- By:
- Publication type:
- Article
The Predictive Value of Procalcitonin and High-Sensitivity C-Reactive Protein for Early Bacterial Infections in Preterm Neonates.
- Published in:
- Neonatology (16617800), 2021, v. 118, n. 1, p. 28, doi. 10.1159/000512523
- By:
- Publication type:
- Article
A missense variant in NUF2, a component of the kinetochore NDC80 complex, causes impaired chromosome segregation and aneuploidy associated with microcephaly and short stature.
- Published in:
- Human Genetics, 2021, v. 140, n. 7, p. 1047, doi. 10.1007/s00439-021-02273-4
- By:
- Publication type:
- Article
Comparison of Simultaneous Quantitative Analysis of Methylmercury and Inorganic Mercury in Cord Blood Using LC-ICP-MS and LC-CVAFS: The Pilot Study of the Japan Environment and Children's Study.
- Published in:
- Toxics, 2021, v. 9, n. 4, p. 82, doi. 10.3390/toxics9040082
- By:
- Publication type:
- Article
New reference ranges of procalcitonin excluding respiratory failure in neonates.
- Published in:
- Pediatrics International, 2020, v. 62, n. 10, p. 1151, doi. 10.1111/ped.14282
- By:
- Publication type:
- Article
Psychometric profile of the Ages and Stages Questionnaires, Japanese translation.
- Published in:
- Pediatrics International, 2019, v. 61, n. 11, p. 1086, doi. 10.1111/ped.13990
- By:
- Publication type:
- Article
Regional differences in infant 25‐Hydroxyvitamin D: Pilot study of the Japan Environment and Children’s Study.
- Published in:
- Pediatrics International, 2018, v. 60, n. 1, p. 30, doi. 10.1111/ped.13410
- By:
- Publication type:
- Article
Impact of the 2016 Kumamoto Earthquake on a female patient with ornithine transcarbamoylase deficiency.
- Published in:
- Pediatrics International, 2017, v. 59, n. 11, p. 1213, doi. 10.1111/ped.13419
- By:
- Publication type:
- Article
Medically dependent severe motor and intellectual disabilities: Time study of medical care.
- Published in:
- Pediatrics International, 2017, v. 59, n. 6, p. 714, doi. 10.1111/ped.13256
- By:
- Publication type:
- Article
Citrulline for urea cycle disorders in Japan.
- Published in:
- Pediatrics International, 2017, v. 59, n. 4, p. 422, doi. 10.1111/ped.13163
- By:
- Publication type:
- Article
Amelioration by glycine of brain damage in neonatal rat brain following hypoxia-ischemia.
- Published in:
- Pediatrics International, 2017, v. 59, n. 3, p. 321, doi. 10.1111/ped.13164
- By:
- Publication type:
- Article
Prenatal diagnosis of Gaucher disease using next-generation sequencing.
- Published in:
- Pediatrics International, 2016, v. 58, n. 9, p. 946, doi. 10.1111/ped.13069
- By:
- Publication type:
- Article
Relieving pain and distress during venipuncture: Pilot study of the Japan Environment and Children's Study (JECS).
- Published in:
- Pediatrics International, 2015, v. 57, n. 5, p. 1044, doi. 10.1111/ped.12818
- By:
- Publication type:
- Article
Diagnosis and treatment of hereditary tyrosinemia in Japan.
- Published in:
- Pediatrics International, 2015, v. 57, n. 1, p. 37, doi. 10.1111/ped.12550
- By:
- Publication type:
- Article
Early intervention for late-onset ornithine transcarbamylase deficiency.
- Published in:
- Pediatrics International, 2015, v. 57, n. 1, p. e1, doi. 10.1111/ped.12457
- By:
- Publication type:
- Article
Biochemical and clinical features of hereditary hyperprolinemia.
- Published in:
- Pediatrics International, 2014, v. 56, n. 4, p. 492, doi. 10.1111/ped.12420
- By:
- Publication type:
- Article
Diagnosis and treatment of urea cycle disorder in Japan.
- Published in:
- Pediatrics International, 2014, v. 56, n. 4, p. 506, doi. 10.1111/ped.12439
- By:
- Publication type:
- Article
VLCAD deficiency in a patient who recovered from ventricular fibrillation, but died suddenly of a respiratory syncytial virus infection.
- Published in:
- Pediatrics International, 2013, v. 55, n. 6, p. 775, doi. 10.1111/ped.12111
- By:
- Publication type:
- Article
Liver biopsy is an important procedure in the diagnosis of glycogen storage disease type IV.
- Published in:
- Pediatrics International, 2011, v. 53, n. 1, p. 129, doi. 10.1111/j.1442-200X.2010.03282.x
- By:
- Publication type:
- Article
Biotin-responsive basal ganglia disease: a case diagnosed by whole exome sequencing.
- Published in:
- Journal of Human Genetics, 2015, v. 60, n. 7, p. 381, doi. 10.1038/jhg.2015.35
- By:
- Publication type:
- Article
Clinical features and management of organic acidemias in Japan.
- Published in:
- Journal of Human Genetics, 2013, v. 58, n. 12, p. 769, doi. 10.1038/jhg.2013.97
- By:
- Publication type:
- Article
Current status of hepatic glycogen storage disease in Japan: clinical manifestations, treatments and long-term outcomes.
- Published in:
- Journal of Human Genetics, 2013, v. 58, n. 5, p. 285, doi. 10.1038/jhg.2013.17
- By:
- Publication type:
- Article
Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies.
- Published in:
- Journal of Human Genetics, 2011, v. 56, n. 2, p. 110, doi. 10.1038/jhg.2010.129
- By:
- Publication type:
- Article
Complete absence of bile and pancreatic ducts in a newborn: a new entity of congenital anomaly in hepato-pancreatic development.
- Published in:
- Journal of Human Genetics, 2003, v. 48, n. 7, p. 380, doi. 10.1007/s10038-003-0041-3
- By:
- Publication type:
- Article
Molecular basis of intermittent maple syrup urine disease: novel mutations in the E2 gene of the branched-chain α-keto acid dehydrogenase complex.
- Published in:
- Journal of Human Genetics, 1998, v. 43, n. 2, p. 91, doi. 10.1007/s100380050047
- By:
- Publication type:
- Article
Plasma exchange and chelator therapy rescues acute liver failure in Wilson disease without liver transplantation.
- Published in:
- Hepatology Research, 2017, v. 47, n. 4, p. 359, doi. 10.1111/hepr.12711
- By:
- Publication type:
- Article
A Significant Difference in the Blood Carnitine Values Obtained by the Enzymatic Cycling and Tandem Mass Spectrometry Methods.
- Published in:
- Clinical Laboratory, 2018, v. 64, p. 211, doi. 10.7754/Clin.Lab.2017.170805
- By:
- Publication type:
- Article
Early liver transplantation in neonatal-onset and moderate urea cycle disorders may lead to normal neurodevelopment.
- Published in:
- Metabolic Brain Disease, 2018, v. 33, n. 5, p. 1517, doi. 10.1007/s11011-018-0259-6
- By:
- Publication type:
- Article
Oral bile Acid treatment in two Japanese patients with Zellweger syndrome.
- Published in:
- 2002
- By:
- Publication type:
- journal article
Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and possible clinical implications.
- Published in:
- 2003
- By:
- Publication type:
- Erratum
Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and possible clinical implications.
- Published in:
- Human Genetics, 2002, v. 111, n. 2, p. 161, doi. 10.1007/s00439-002-0761-z
- By:
- Publication type:
- Article
Liver transplantation may prevent neurodevelopmental deterioration in high-risk patients with urea cycle disorders.
- Published in:
- Pediatric Transplantation, 2017, v. 21, n. 6, p. n/a, doi. 10.1111/petr.12987
- By:
- Publication type:
- Article
Improvement in the prognosis and development of patients with methylmalonic acidemia after living donor liver transplant.
- Published in:
- Pediatric Transplantation, 2016, v. 20, n. 8, p. 1081, doi. 10.1111/petr.12804
- By:
- Publication type:
- Article
Living donor liver transplantation from a heterozygous parent for classical maple syrup urine disease.
- Published in:
- Pediatric Transplantation, 2015, v. 19, n. 3, p. E66, doi. 10.1111/petr.12447
- By:
- Publication type:
- Article
Re-evaluation of the indications for liver transplantation in Wilson's disease based on the outcomes of patients referred to a transplant center.
- Published in:
- Pediatric Transplantation, 2013, v. 17, n. 4, p. 369, doi. 10.1111/petr.12085
- By:
- Publication type:
- Article
Measles antibody seropositivity among children with allergic diseases: A cross-sectional study in the Japan Environment & Children's Pilot Study.
- Published in:
- PLoS ONE, 2021, v. 16, n. 9, p. 1, doi. 10.1371/journal.pone.0257721
- By:
- Publication type:
- Article
Associations of dog and cat ownership with wheezing and asthma in children: Pilot study of the Japan Environment and children's study.
- Published in:
- PLoS ONE, 2020, v. 15, n. 5, p. 1, doi. 10.1371/journal.pone.0232604
- By:
- Publication type:
- Article
Factors associated with occupation changes after pregnancy/delivery: result from Japan Environment & Children's pilot study.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Early-onset neonatal hyperkalemia associated with maternal hypermagnesemia: a case report.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Elective Cesarean Section during Preterm Prevents Pulmonary Hypoplasia Development in Potter Sequence.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
Medium-chain triglycerides supplement therapy with a low-carbohydrate formula can supply energy and enhance ammonia detoxification in the hepatocytes of patients with adult-onset type II citrullinemia.
- Published in:
- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 5, p. 777, doi. 10.1007/s10545-018-0176-1
- By:
- Publication type:
- Article
Erratum to: Clinical, biochemical and molecular analysis of 13 Japanese patients with β-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation.
- Published in:
- 2014
- By:
- Publication type:
- Erratum
Clinical, biochemical and molecular analysis of 13 Japanese patients with β-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation.
- Published in:
- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 5, p. 801, doi. 10.1007/s10545-014-9682-y
- By:
- Publication type:
- Article
Long-term outcome and intervention of urea cycle disorders in Japan.
- Published in:
- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 5, p. 777, doi. 10.1007/s10545-011-9427-0
- By:
- Publication type:
- Article
A female patient with GSD IXc developing multiple and recurrent hepatocellular carcinoma: a case report and literature review.
- Published in:
- Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00172-8
- By:
- Publication type:
- Article
Association of excessive mobile phone use during pregnancy with birth weight: an adjunct study in Kumamoto of Japan Environment and Children’s Study.
- Published in:
- Environmental Health & Preventive Medicine, 2017, v. 22, n. 1, p. 1, doi. 10.1186/s12199-017-0656-1
- By:
- Publication type:
- Article
SGLT2 inhibition alleviated hyperglycemia, glucose intolerance, and dumping syndrome-like symptoms in a patient with glycogen storage disease type Ia: a case report.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Phenotypic Variability and Newly Identified Mutations of the IVD Gene in Japanese Patients with Isovaleric Acidemia.
- Published in:
- Tohoku Journal of Experimental Medicine, 2015, v. 236, n. 2, p. 103, doi. 10.1620/tjem.236.103
- By:
- Publication type:
- Article
Reversal of blood flow in deep cerebral vein in preterm intraventricular hemorrhage: two case reports.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Recovery of severe acute liver failure without transplantation in patients with Wilson disease.
- Published in:
- Pediatric Transplantation, 2018, v. 22, n. 8, p. N.PAG, doi. 10.1111/petr.13292
- By:
- Publication type:
- Article