553 results on '"Yorifuji, Tohru"'
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2. New classification and diagnostic criteria for insulin resistance syndrome
3. Serum Amino Acid Profiling in Citrin-Deficient Children Exhibiting Normal Liver Function During the Apparently Healthy Period
4. Mutational and clinical spectrum of Japanese patients with hereditary hemorrhagic telangiectasia
5. A case of diffuse congenital hyperinsulinism in which continuous glucose monitoring contributed to the choice of a treatment strategy following a subtotal pancreatectomy
6. A Male Japanese Patient with Temple Syndrome Complicated by Type 2 Diabetes Mellitus
7. A case of CHARGE syndrome associated with hyperinsulinemic hypoglycemia in infancy
8. Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients
9. Growth hormone activates hepatic and cerebral cholesterol metabolism in small-for-gestational age children without catch-up growth
10. Circulating tricarboxylic acid cycle metabolite levels in citrin-deficient children with metabolic adaptation, with and without sodium pyruvate treatment
11. International Guidelines for the Diagnosis and Management of Hyperinsulinism.
12. Congenital hyperinsulinism treated by surgical resection of the hyperplastic lesion which had been preoperatively diagnosed by 18F-DOPA PET examination in Japan: a nationwide survey
13. International Guidelines for the Diagnosis and Management of Hyperinsulinism
14. Glucokinase maturity-onset diabetes of the young as a mimicker of stress hyperglycemia: a case report
15. Increased frequency of central precocious puberty during the coronavirus disease (COVID-19) pandemic at a single center in the Osaka Metropolitan Area of Japan
16. Targeted gene panel analysis of Japanese patients with maturity‐onset diabetes of the young‐like diabetes mellitus: Roles of inactivating variants in theABCC8and insulin resistance genes
17. Changes of lipoproteins in phenylalanine hydroxylase-deficient children during the first year of life
18. Serum Amino Acid Profiling in Citrin-Deficient Children Exhibiting Normal Liver Function During the Apparently Healthy Period
19. Diagnosis of congenital hyperinsulinism: Biochemical profiles during hypoglycemia
20. Characteristics of NO cycle coupling with urea cycle in non-hyperammonemic carriers of ornithine transcarbamylase deficiency
21. Metabolic improvements in intrahepatic porto-systemic venous shunt presenting various metabolic abnormalities by 4-phenylacetate
22. Oxysterol changes along with cholesterol and vitamin D changes in adult phenylketonuric patients diagnosed by newborn mass-screening
23. Tricho-hepato-enteric syndrome with novel SKIV2L gene mutations: A case report
24. Molecular and clinical features of KATP‐channel neonatal diabetes mellitus in Japan
25. Fatty liver and anti-oxidant enzyme activities along with peroxisome proliferator-activated receptors γ and α expressions in the liver of Wilson's disease
26. Experimental evidence that phenylalanine is strongly associated to oxidative stress in adolescents and adults with phenylketonuria
27. CD36 deficiency predisposing young children to fasting hypoglycemia
28. Identification of clinical factors related to antibody‐mediated immune response to the subfornical organ
29. 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.
30. Altered metabolisms of mediators controlling vascular function and enhanced oxidative stress in asymptomatic children with congenital portosystemic venous shunt
31. Preoperative diagnosis of congenital segmental giant megaureter presenting as a fetal abdominal mass
32. New classification and diagnostic criteria for insulin resistance syndrome
33. Efficacy and Safety of Once-Weekly Somatrogon Compared with Once-Daily Somatropin (Genotropin®) in Japanese Children with Pediatric Growth Hormone Deficiency: Results from a Randomized Phase 3 Study
34. A 36-year-old Man with Repeated Short-term Transient Hyperammonemia and Impaired Consciousness with a Confirmed Carbamoyl Phosphate Synthase 1 Gene Monoallelic Mutation
35. ApoE4 Determines the Reduction in LDL-C After GH Replacement Therapy in Children With an Idiopathic GH Deficiency
36. Sustaining hypercitrullinemia, hypercholesterolemia and augmented oxidative stress in Japanese children with aspartate/glutamate carrier isoform 2-citrin-deficiency even during the silent period
37. Evaluation of endogenous nitric oxide synthesis in congenital urea cycle enzyme defects
38. Effects of bezafibrate on dyslipidemia with cholestasis in children with familial intrahepatic cholestasis–1 deficiency manifesting progressive familial intrahepatic cholestasis
39. Lipoprotein profiles in children with two common cholesteryl ester transfer protein gene mutations, D442G and I14A, during the first year of life
40. Case Report: A Difficult-to-Diagnose Case of Hyperinsulinemic Hypoglycemia Surgically Treated After Developing Acute Pancreatitis
41. Accelerated pubertal onset in short children with delayed bone age
42. Sustained high plasma mannose less sensitive to fluctuating blood glucose in glycogen storage disease type Ia children
43. Long-term outcome and intervention of urea cycle disorders in Japan
44. Cross-sectional study of bone metabolism with nutrition in adult classical phenylketonuric patients diagnosed by neonatal screening
45. Living-donor Liver Transplantation for Progressive Familial Intrahepatic Cholestasis
46. Fluctuation of lipoprotein metabolism linked with bile acid-activated liver nuclear receptors in Alagille syndrome
47. Relapsing 6q24-related transient neonatal diabetes mellitus successfully treated with a dipeptidyl peptidase-4 inhibitor: a case report
48. Congenital hyperinsulinism: Global and Japanese perspectives
49. Improvements of hypertriglyceridemia and hyperlacticemia in Japanese children with glycogen storage disease type Ia by medium-chain triglyceride milk
50. Molecular and clinical analyses of Japanese patients with carbamoylphosphate synthetase 1 (CPS1) deficiency
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