Found: 19
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SLC2A1 gene analysis of Japanese patients with glucose transporter 1 deficiency syndrome.
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- Journal of Human Genetics, 2011, v. 56, n. 12, p. 846, doi. 10.1038/jhg.2011.115
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- 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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- Article
Challenge of phenotype estimation for optimal treatment of Krabbe disease.
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- Journal of Neuroscience Research, 2016, v. 94, n. 11, p. 1025, doi. 10.1002/jnr.23914
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- Article
A Case of Mucopolysaccharidosis II Caused by a Novel Variant with Skin Linear Hyperpigmented Streaks along Blaschko's Lines.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 6, p. 5647, doi. 10.3390/ijms24065647
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- Article
Hematopoietic Disorders, Renal Impairment and Growth in Mucopolysaccharidosis-Plus Syndrome.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 10, p. 5851, doi. 10.3390/ijms23105851
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- Article
Mucopolysaccharidosis-Plus Syndrome.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 2, p. 1, doi. 10.3390/ijms21020421
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- Article
Changes in serum antibody titers after vaccination for COVID-19 and evaluation of post-vaccination health conditions.
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- Kawasaki Medical Journal, 2022, v. 48, p. 73, doi. 10.11482/KMJ-E202248073
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- Article
Prenatal Diagnosis of Mucopolysaccharidosis-Plus Syndrome (MPSPS).
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- Genes, 2023, v. 14, n. 8, p. 1581, doi. 10.3390/genes14081581
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- Article
A case of Marfanoid-progeroid-lipodystrophy syndrome: experimental proof of skipping exons and escaping nonsense-mediated decay.
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- Human Genome Variation, 2023, v. 10, n. 1, p. 1, doi. 10.1038/s41439-023-00255-8
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- Article
A novel nonsense variant in ARID1B causing simultaneous RNA decay and exon skipping is associated with Coffin-Siris syndrome.
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- Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00203-y
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- Article
Decreased bone formation and increased osteoclastogenesis cause bone loss in mucolipidosis II.
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- EMBO Molecular Medicine, 2013, v. 5, n. 12, p. 1871, doi. 10.1002/emmm.201302979
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- Article
Novel neuroblastoma amplified sequence (NBAS) mutations in a Japanese boy with fever-triggered recurrent acute liver failure.
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- Human Genome Variation, 2019, v. 6, n. 1, p. N.PAG, doi. 10.1038/s41439-018-0035-5
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- Article
EBV replicon vector system enhances transgene expression in vivo: applications to cancer gene therapy.
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- Journal of Gene Medicine, 2001, v. 3, n. 4, p. 345, doi. 10.1002/jgm.199
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- Article
Starvation-induced autophagy via calcium-dependent TFEB dephosphorylation is suppressed by Shigyakusan.
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- PLoS ONE, 2020, v. 14, n. 3, p. 1, doi. 10.1371/journal.pone.0230156
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- Article
A case series of Fabry diseases with CKD in Japan.
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- Clinical & Experimental Nephrology, 2024, v. 28, n. 5, p. 404, doi. 10.1007/s10157-023-02439-6
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- Article
Mutation in VPS33A affects metabolism of glycosaminoglycans: a new type of mucopolysaccharidosis with severe systemic symptoms.
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- Human Molecular Genetics, 2017, v. 26, n. 1, p. 173, doi. 10.1093/hmg/ddw377
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- Article
HOPS, CORVET and newly-identified Hybrid tethering complexes contribute differentially towards multiple modes of endocytosis.
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- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-45418-3
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- Article
Autophagosome-lysosome fusion in neurons requires INPP5E, a protein associated with Joubert syndrome.
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- EMBO Journal, 2016, v. 35, n. 17, p. 1853, doi. 10.15252/embj.201593148
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- Article
Elevated Bone Turnover in an Infantile Patient with Mucolipidosis II; No Association with Hyperparathyroidism.
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- Clinical Pediatric Endocrinology, 2011, v. 20, n. 1, p. 7, doi. 10.1297/cpe.20.7
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- Article