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Improvements of hypertriglyceridemia and hyperlacticemia in Japanese children with glycogen storage disease type Ia by medium-chain triglyceride milk.
- Published in:
- 2007
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- Publication type:
- journal article
Effects of arginine treatment on nutrition, growth and urea cycle function in seven Japanese boys with late-onset ornithine transcarbamylase deficiency.
- Published in:
- 2006
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- Publication type:
- journal article
X-inactivation pattern in the liver of a manifesting female with ornithine transcarbamylase (OTC) deficiency.
- Published in:
- Clinical Genetics, 1998, v. 54, n. 4, p. 349, doi. 10.1034/j.1399-0004.1998.5440415.x
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- Publication type:
- Article
Skewed X inactivation in manifesting carriers of Duchenne muscular dystrophy.
- Published in:
- Clinical Genetics, 1998, v. 53, n. 2, p. 102, doi. 10.1111/j.1399-0004.1998.tb02655.x
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- Publication type:
- Article
High Prevalence of Severe Circulatory Complications with Diazoxide in Premature Infants.
- Published in:
- Neonatology (16617800), 2014, v. 105, n. 3, p. 166, doi. 10.1159/000356772
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- Publication type:
- Article
Living-donor Liver Transplantation for Progressive Familial Intrahepatic Cholestasis.
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- World Journal of Surgery, 2011, v. 35, n. 2, p. 393, doi. 10.1007/s00268-010-0869-6
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- Publication type:
- Article
Congenital hyperinsulinism: Global and Japanese perspectives.
- Published in:
- Pediatrics International, 2014, v. 56, n. 4, p. 467, doi. 10.1111/ped.12390
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- Publication type:
- Article
Diabetes caused by Kir6.2 mutation: Successful treatment with oral glibenclamide switched from continuous subcutaneous insulin infusion in the early phase of the disease.
- Published in:
- Pediatrics International, 2012, v. 54, n. 2, p. 277, doi. 10.1111/j.1442-200X.2011.03413.x
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- Publication type:
- Article
Liver transplantation in a case of hypoproteinemia and coagulopathy.
- Published in:
- Pediatrics International, 1998, v. 40, n. 1, p. 96, doi. 10.1111/j.1442-200X.1998.tb01414.x
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- Publication type:
- Article
Y Chromosome Specific DNA Probe in the Diagnosis of a Patient with mos 45, X/46, XYnf.
- Published in:
- Pediatrics International, 1989, v. 31, n. 1, p. 85, doi. 10.1111/j.1442-200X.1989.tb01274.x
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- Publication type:
- Article
Accelerated Ventricular Rhythm in a 13-Year-Old Male.
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- Pediatrics International, 1987, v. 29, n. 5, p. 781, doi. 10.1111/j.1442-200X.1987.tb00378.x
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- Publication type:
- Article
Clinical features and management of organic acidemias in Japan.
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- Journal of Human Genetics, 2013, v. 58, n. 12, p. 769, doi. 10.1038/jhg.2013.97
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- Publication type:
- Article
Current status of hepatic glycogen storage disease in Japan: clinical manifestations, treatments and long-term outcomes.
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- Journal of Human Genetics, 2013, v. 58, n. 5, p. 285, doi. 10.1038/jhg.2013.17
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- Publication type:
- Article
Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype–phenotype correlation.
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- Journal of Human Genetics, 2009, v. 54, n. 3, p. 145, doi. 10.1038/jhg.2009.3
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- Publication type:
- Article
Molecular and clinical analyses of Japanese patients with carbamoylphosphate synthetase 1 (CPS1) deficiency.
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- 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
Identification of a novel single base-pair polymorphism in the glutamate dehydrogenase (GLUD1) gene.
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- Journal of Human Genetics, 1999, v. 44, n. 4, p. 268, doi. 10.1007/s100380050158
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- Publication type:
- Article
Changes in the ganglioside composition of human neuroblastoma cells under different growth conditions.
- Published in:
- International Journal of Cancer, 1991, v. 47, n. 5, p. 742, doi. 10.1002/ijc.2910470520
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- Publication type:
- Article
A 36-year-old Man with Repeated Short-term Transient Hyperammonemia and Impaired Consciousness with a Confirmed Carbamoyl Phosphate Synthase 1 Gene Monoallelic Mutation.
- Published in:
- Internal Medicine, 2022, v. 61, n. 9, p. 1387, doi. 10.2169/internalmedicine.7961-21
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- Publication type:
- Article
The Diagnosis and Management of Lipodystrophy Syndromes: A Multi-Society Practice Guideline.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Molecular and Clinical Analysis of Japanese Patients with Persistent Congenital Hyperinsulinism: Predominance of Paternally Inherited Monoallelic Mutations in the K<sub>ATP</sub> Channel Genes.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2011, v. 96, n. 1, p. E141, doi. 10.1210/jc.2010-1281
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- Publication type:
- Article
Histological findings in the livers of patients with neonatal intrahepatic cholestasis caused by citrin deficiency.
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- Hepatology Research, 2010, v. 40, n. 3, p. 295, doi. 10.1111/j.1872-034X.2009.00594.x
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- Publication type:
- Article
Targeted gene panel analysis of Japanese patients with maturity‐onset diabetes of the young‐like diabetes mellitus: Roles of inactivating variants in the ABCC8 and insulin resistance genes.
- Published in:
- Journal of Diabetes Investigation, 2023, v. 14, n. 3, p. 387, doi. 10.1111/jdi.13957
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- Publication type:
- Article
Nationwide survey of endogenous hyperinsulinemic hypoglycemia in Japan (2017–2018): Congenital hyperinsulinism, insulinoma, non‐insulinoma pancreatogenous hypoglycemia syndrome and insulin autoimmune syndrome (Hirata's disease).
- Published in:
- Journal of Diabetes Investigation, 2020, v. 11, n. 3, p. 554, doi. 10.1111/jdi.13180
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- Publication type:
- Article
Clinical characteristics of insulin resistance syndromes: A nationwide survey in Japan.
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- Journal of Diabetes Investigation, 2020, v. 11, n. 3, p. 603, doi. 10.1111/jdi.13171
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- Publication type:
- Article
Pregnancy outcome of Japanese patients with glucokinase–maturity‐onset diabetes of the young.
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- Journal of Diabetes Investigation, 2019, v. 10, n. 6, p. 1586, doi. 10.1111/jdi.13046
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- Publication type:
- Article
Identification of a variant associated with early‐onset diabetes in the intron of the insulin gene with exome sequencing.
- Published in:
- Journal of Diabetes Investigation, 2019, v. 10, n. 4, p. 947, doi. 10.1111/jdi.12974
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- Publication type:
- Article
International Guidelines for the Diagnosis and Management of Hyperinsulinism.
- Published in:
- Hormone Research in Paediatrics, 2024, v. 97, n. 3, p. 279, doi. 10.1159/000531766
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- Publication type:
- Article
Mutational and clinical spectrum of Japanese patients with hereditary hemorrhagic telangiectasia.
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- BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-01139-y
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- Publication type:
- Article
Domperidone With ORT in the Treatment of Pediatric Acute Gastroenteritis in Japan: A Multicenter, Randomized Controlled Trial.
- Published in:
- Asia-Pacific Journal of Public Health, 2015, v. 27, n. 2, p. NP174, doi. 10.1177/1010539511425701
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- Publication type:
- Article
Low Frequencies of Autoimmunity-Associated PTPN22 Polymorphisms in MODY Patients, Including Those Transiently Expressing Islet Cell Autoantibodies.
- Published in:
- International Archives of Allergy & Immunology, 2015, v. 166, n. 3, p. 189, doi. 10.1159/000380853
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- Publication type:
- Article
Craniotabes in normal newborns: the earliest sign of subclinical vitamin D deficiency.
- Published in:
- 2008
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- Publication type:
- journal article
Reduced Apolipoprotein E-Rich High-Density Lipoprotein Level at Birth Is Restored to the Normal Range in Patients with Familial Hypercholesterolemia in the First Year of Life.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2008, v. 93, n. 3, p. 779, doi. 10.1210/jc.2007-1621
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- Publication type:
- Article
The C42R Mutation in the Kir6.2 (KCNJ11) Gene as a Cause of Transient Neonatal Diabetes, Childhood Diabetes, or Later-Onset, Apparently Type 2 Diabetes Mellitus.
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- Journal of Clinical Endocrinology & Metabolism, 2005, v. 90, n. 6, p. 3174, doi. 10.1210/jc.2005-0096
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- Publication type:
- Article
Neonatal Diabetes Mellitus and Neonatal Polycystic, Dysplastic Kidneys: Phenotypically Discordant Recurrence of a Mutation in the Hepatocyte Nuclear Factor-1β Gene Due to Germline Mosaicism.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2004, v. 89, n. 6, p. 2905, doi. 10.1210/jc.2003-031828
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- Publication type:
- Article
Neonatal Diabetes Mellitus and Neonatal Polycystic, Dysplastic Kidneys: Phenotypically Discordant Recurrence of a Mutation in the Hepatocyte Nuclear Factor-1β Gene Due to Germline Mosaicism
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2004, v. 89, n. 6, p. 2905, doi. 10.1210/jc.2003-031828
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- Publication type:
- Article
Turner Syndrome and Xp Deletions: Clinical and Molecular Studies in 47 Patients.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2001, v. 86, n. 11, p. 5498, doi. 10.1210/jcem.86.11.8058
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- Publication type:
- Article
Indian childhood cirrhosis-like disease in a Japanese boy undergoing liver transplantation.
- Published in:
- 1999
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- Publication type:
- journal article
Fibrillin I gene polymorphism is associated with tall stature of normal individuals.
- Published in:
- Human Genetics, 2006, v. 120, n. 5, p. 733, doi. 10.1007/s00439-006-0263-5
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- Publication type:
- 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
Molecular and clinical analysis of Japanese patients with 3-hydroxy-3-methylglutaryl CoA lyase (HL) deficiency.
- Published in:
- Human Genetics, 2000, v. 107, n. 4, p. 320, doi. 10.1007/s004390000363
- By:
- Publication type:
- Article
Living-donor liver transplantation for propionic acidemia.
- Published in:
- Pediatric Transplantation, 2012, v. 16, n. 3, p. 230, doi. 10.1111/j.1399-3046.2011.01607.x
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- Publication type:
- Article
Combination therapy with GH and cyproterone acetate does not improve final height in boys with non-GH-deficient short stature.
- Published in:
- Clinical Endocrinology, 1998, v. 48, n. 1, p. 53, doi. 10.1046/j.1365-2265.1998.00348.x
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- Publication type:
- Article
Accelerated pubertal onset in short children with delayed bone age.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2022, v. 35, n. 2, p. 163, doi. 10.1515/jpem-2021-0313
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- Publication type:
- Article
Successful treatment of infantile-onset ACAD9-related cardiomyopathy with a combination of sodium pyruvate, beta-blocker, and coenzyme Q<sub>10</sub>.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2019, v. 32, n. 10, p. 1181, doi. 10.1515/jpem-2019-0205
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- Publication type:
- Article
Three years of liraglutide treatment offers continuously optimal glycemic control in a pediatric patient with maturity-onset diabetes of the young type 3.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2015, v. 28, n. 3/4, p. 327, doi. 10.1515/jpem-2014-0211
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- Publication type:
- Article
DEND syndrome due to V59A mutation in KCNJ11 gene: unresponsive to sulfonylureas.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2013, v. 26, n. 1/2, p. 143, doi. 10.1515/jpem-2012-0236
- By:
- Publication type:
- Article
Case Report: A Difficult-to-Diagnose Case of Hyperinsulinemic Hypoglycemia Surgically Treated After Developing Acute Pancreatitis.
- Published in:
- Frontiers in Endocrinology, 2021, v. 12, p. 1, doi. 10.3389/fendo.2021.731071
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- Publication type:
- Article
Growth Hormone Treatment Does Not Improve Prepubertal Growth in Russell-Silver Syndrome.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 1991, v. 4, n. 4, p. 263, doi. 10.1515/jpem.1991.4.4.263
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- Publication type:
- Article
Metabolism and Toxicity of Electroporated 1-β- d-Arabinofuranosylcytosine Triphosphate in a Human Leukemia Cell Line.
- Published in:
- Cancer Science, 1990, v. 81, n. 12, p. 1314, doi. 10.1111/j.1349-7006.1990.tb02696.x
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- Publication type:
- Article