Two novel mutations in a Japanese patient with the late-infantile form of metachromatic leukodystrophy
スポンサーリンク
概要
著者
-
Eto Yoshikatsu
Department Of Gene Therapy Institute Of Dna Medicine Jikei University School Of Medicine
-
Eto Yoshikatsu
Department Of Pediatrics The Jikei University School Of Medicine
-
Tsuda Takashi
Department Of Pediatrics The Jikei University School Of Medicine
-
HASEGAWA Yoriyasu
Department of Pediatrics, The Jikei University School of Medicine
-
Hasegawa Yoriyasu
Department Of Pediatrics The Jikei University School Of Medicine
-
ETO YOSHIKATSU
Department of Pediatrics, The Jikei University School of Medicine
関連論文
- A Neonatal Case of Autosomal Dominant Hypoparathyroidism without Mutation of the CASR Gene
- Factors associated with practice of procedures in pediatric-related areas among certified pediatricians
- Retinochoroidal infarction during the treatment of acute lymphoblastic leukemia
- Allogenic bone marrow transplantation for late-infantile neuronal ceroid lipofuscinosis
- Home-based palliative care for children with cancer in Japan, present issues and future prospects
- 気管支喘息児における血清ビタミンA濃度の検討
- Adenovirus-mediated CD40L gene therapy induced both humoral and cellular immunity against rat model of hepatocellular carcinoma
- Screening for Mutations in the GH-1 Gene by Dideoxy Fingerprinting (ddf)
- Successful Intrauterine Therapy for Fetal Goitrous Hypothyroidism during Late Gestation
- Serum glucagon-like peptide-2 levels in neonates : Comparison between extremely low-birthweight infants and normal-term infants
- Extremely low-birthweight neonate with prenatal Campylobacter infection
- In vitro and Pathological Investigations of MODY5 with the R276X-HNF1β(TCF2) Mutation
- Significance of screening for Fabry disease among male dialysis patients
- 胎児性ゴーシェ病 (fetal Gaucher disease) の一剖検例
- Challenge to Neurodegenerative Disorders
- 11-year-old boy with sarcoidosis and generalized brawny induration of muscle
- 小児喘息発作救急受診に影響する気象条件
- A Novel Mutation of the Arginine Vasopressin Receptor 2 Gene in a Patient with Congenital Nephrogenic Diabetes Insipidus
- Novel nonsense mutation of the BMPR-II gene in a Japanese patient with familial primary pulmonary hypertension
- Two novel mutations in a Japanese patient with the late-infantile form of metachromatic leukodystrophy
- Physiological Function and Localization of a Short Isoform of the Corticotropin-Releasing Factor Receptor Subtype (CRF2α-tr) in the Rat Brain
- A case of isolated retrograde amnesia following brain concussion
- Constitutionally Tall Stature with Morphological Abnormality of the Pituitary Gland