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35 results on '"Motomichi Kosuga"'

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1. Potential patient screening for late-onset Pompe disease in suspected sleep apnea: a rationale and study design for a Prospective Multicenter Observational Cohort Study in Japan (PSSAP-J Study)

2. Early enzyme replacement therapy enables a successful hematopoietic stem cell transplantation in mucopolysaccharidosis type IH: Divergent clinical outcomes in two Japanese siblings

3. Natural history of cognitive development in neuronopathic mucopolysaccharidosis type II (Hunter syndrome): Contribution of genotype to cognitive developmental course

4. The second report on spondyloepimetaphyseal dysplasia, aggrecan type: a milder phenotype than originally reported

5. The efficacy of intracerebroventricular idursulfase-beta enzyme replacement therapy in mucopolysaccharidosis II murine model: heparan sulfate in cerebrospinal fluid as a clinical biomarker of neuropathology

6. A molecular analysis of the GAA gene and clinical spectrum in 38 patients with Pompe disease in Japan

7. Progression of Left Ventricular Fibrosis in a Woman with Anderson-Fabry Disease: Longitudinal Observations Using Two-Dimensional Speckle-Tracking Echocardiography

8. Enzyme replacement therapy attenuates disease progression in two Japanese siblings with mucopolysaccharidosis type VI: 10-Year follow up

9. Cerebral magnetic resonance findings during enzyme replacement therapy in mucopolysaccharidosis

10. Juvenile-onset neuronal ceroid lipofuscinosis (CLN1) disease with a novel deletion and duplication in the PPT1 gene

11. Screening for late-onset Pompe disease in undiagnosed myopathies

13. A selective detection of lysophosphatidylcholine in dried blood spots for diagnosis of adrenoleukodystrophy by LC-MS/MS

14. Successful prevention and stabilization of cognitive decline in Japanese patients with neuronopathic mucopolysaccharidosis type II treated by intracerebroventricular enzyme replacement therapy: Results of the Phase I/II clinical trial for two years

15. New treatment method for mucopolysaccharidosis type <scp>VI</scp> by liver transplantation

16. Association between the clinical presentation of congenital anomalies of the kidney and urinary tract (CAKUT) and gene mutations: an analysis of 66 patients at a single institution

17. P-Tau and Subunit c Mitochondrial ATP Synthase Accumulation in the Central Nervous System of a Woman with Hurler-Scheie Syndrome Treated with Enzyme Replacement Therapy for 12 Years

18. Identifying the need for a multidisciplinary approach for early recognition of mucopolysaccharidosis VI (MPS VI)

19. Enzyme replacement therapy attenuates disease progression in two Japanese siblings with mucopolysaccharidosis type VI: 10-year follow up (case report)

20. Effects of idursulfase enzyme replacement therapy for Mucopolysaccharidosis type II when started in early infancy: Comparison in two siblings

21. A Senile Case of Late-onset Pompe's Disease

22. Divergent clinical outcomes of alpha-glucosidase enzyme replacement therapy in two siblings with infantile-onset Pompe disease treated in the symptomatic or pre-symptomatic state

23. Current diagnosis and management of mucopolysaccharidosis VI in the Asia-Pacific region

24. Investigator-initiated clinical trial of intra-cerebroventricular enzyme replacement therapy for neuronopathic mucopolysaccharidosis type II

25. Improvement of skeletal lesions in mice with mucopolysaccharidosis type vii by neonatal adenoviral gene transfer

26. High-risk screening for late-onset Pompe disease in Japan

27. Overcoming the barriers to diagnosis of Morquio A syndrome

28. CT and endoscopic evaluation of larynx and trachea in mucopolysaccharidoses

29. Adenovirus-Mediated Gene Therapy for Corneal Clouding in Mice with Mucopolysaccharidosis Type VII

30. Genotype of mucopolysaccharidosis type II severe form and the efficacy of enzyme replacement therapy or hematopoietic stem cell transplantation on cognitive function

32. OEIS complex with del(3)(q12.2q13.2)

34. Enzyme replacement therapy attenuates disease progression in two Japanese siblings with mucopolysaccharidosis type VI

35. Efficacy of hematopoietic stem cell transplantation versus enzyme replacement therapy on brain function in patients with mucopolysaccharidosis type II

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