260 results on '"Yoshino, Makoto"'
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2. Fatigue and quality of life in citrin deficiency during adaptation and compensation stage
3. Moving towards a novel therapeutic strategy for hyperammonemia that targets glutamine metabolism
4. Experimental evidence that phenylalanine is strongly associated to oxidative stress in adolescents and adults with phenylketonuria
5. Laronidase replacement therapy improves myocardial function in mucopolysaccharidosis I
6. Effects of long-term zinc treatment in Japanese patients with Wilson disease: efficacy, stability, and copper metabolism
7. Long-term outcome and intervention of urea cycle disorders in Japan
8. Cross-sectional study of bone metabolism with nutrition in adult classical phenylketonuric patients diagnosed by neonatal screening
9. Early intervention for late-onset ornithine transcarbamylase deficiency
10. Paternal transmission and slow elimination of mutant alleles associated with late-onset ornithine transcarbamylase deficiency in male patients
11. Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency
12. Molecular and clinical analyses of Japanese patients with carbamoylphosphate synthetase 1 (CPS1) deficiency
13. ジレイシキ ムコウ デンリョク ホショウ ソウチ ヲ モチイタ コウソク クリカエシ デンアツ ヘンドウ タイサク
14. MLL2 and KDM6A mutations in patients with Kabuki syndrome
15. Carbon Molecular Sieving Membranes Derived from Lignin-Based Materials
16. Guide for diagnosis and treatment of hyperphenylalaninemia
17. Levothyroxine replacement therapy and refractory hypotension out of transitional period in preterm infants
18. Attitude to extended use and long-term storage of newborn screening blood spots in Japan
19. Various types of LRP5 mutations in four patients with osteoporosis-pseudoglioma syndrome: Identification of a 7.2-kb microdeletion using oligonucleotide tiling microarray
20. Roles of specific cytokines in bone remodeling and hematopoiesis in Gaucher disease
21. Late-onset ornithine transcarbamylase deficiency in male patients: Prognostic factors and characteristics of plasma amino acid profile
22. Preparation of Carbon Molecular Sieve Membranes and Their Gas Separation Properties
23. Effect of supplementation with l-carnitine at a small dose on acylcarnitine profiles in serum and urine and the renal handling of acylcarnitines in a patient with multiple acyl-coenzyme A dehydrogenation defect
24. Female heterozygotes for the hypomorphic R40H mutation can have ornithine transcarbamylase deficiency and present in early adolescence: a case report and review of the literature
25. Two cases of benign methylmalonic aciduria detected during a pilot study of neonatal urine screening
26. Phenotypic variability in male patients carrying the mutant ornithine transcarbamylase (OTC) allele, Arg40His, ranging from a child with an unfavourable prognosis to an asymptomatic older adult
27. Human Biotin-Containing Subunit of 3-Methylcrotonyl-CoA Carboxylase Gene (MCCA): cDNA Sequence, Genomic Organization, Localization to Chromosomal Band 3q27, and Expression
28. Hyperammonemia in the Neonate with Hypoxia
29. Argininemia: Report of a New Case and Mechanisms of Orotic Aciduria and Hyperammonemia
30. Serum Guanidinosuccinic Acid Levels In Urea Cycle Diseases
31. The Panggonryong Incident : Its Origins
32. Incidences of dystopia canthorum and some other signs in a family with Waardenburg syndrome type I
33. Mutant α-galactosidase A with M296I does not cause elevation of the plasma globotriaosylsphingosine level
34. <Review>H. Miyajima, A Study on the History of Land Investigation Program in Korea, Tokyo, 1991
35. Studies of Korean History by Hideki Kazimura
36. Corrigendum to “The first Japanese case of the arthrochalasia type of Ehlers–Danlos syndrome with COL1A2 gene mutation” [Gene 538 (2014) 199–203]
37. The first Japanese case of the arthrochalasia type of Ehlers–Danlos syndrome with COL1A2 gene mutation
38. An adult patient with mucolipidosis III alpha/beta presenting with parkinsonism
39. Coagulopathy in Patients With Late-Onset Ornithine Transcarbamylase Deficiency in Remission State: A Previously Unrecognized Complication
40. Long‐term outcome and intervention of urea cycle disorders in Japan
41. Zinc Monotherapy From Time of Diagnosis for Young Pediatric Patients With Presymptomatic Wilson Disease
42. A familial case of LEOPARD syndrome associated with a high-functioning autism spectrum disorder
43. A long-term survival case of arginase deficiency with severe multicystic white matter and compound mutations
44. Female heterozygotes for the hypomorphic R40H mutation can have ornithine transcarbamylase deficiency and present in early adolescence: a case report and review of the literature
45. Various types of LRP5 mutations in four patients with osteoporosis‐pseudoglioma syndrome: Identification of a 7.2‐kb microdeletion using oligonucleotide tiling microarray
46. Direct methanol fuel cell performance of sulfonated polyimide membranes
47. Mutant alleles associated with late-onset ornithine transcarbamylase deficiency in male patients have recurrently arisen and have been retained in some populations
48. Modeling User Cooperation Problem in Mobile Overlay Multicast as a Multi-Agent System
49. Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype–phenotype correlation
50. 2004 Influence of a Jet-Fan Spiral Component on the Tunnel Ventilation
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