Found: 19
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Complete response of early gastric cancer to uracil and tegafur.
- Published in:
- 1998
- By:
- Publication type:
- journal article
Eradication of virus-infected T-cells in a case of adult T-cell leukemia/lymphoma by nonmyeloablative peripheral blood stem cell transplantation with conditioning consisting of low-dose total body irradiation and pentostatin.
- Published in:
- 2002
- By:
- Publication type:
- journal article
Management of advanced-stage neuroblastoma in a patient with 21-hydroxalase deficiency.
- Published in:
- Pediatrics International, 2013, v. 55, n. 4, p. e96, doi. 10.1111/ped.12093
- By:
- Publication type:
- Article
Catalytic Asymmetric Epoxidation of α,β-Unsaturated Phosphane Oxides with a Y(O- iPr)<sub>3</sub>/Biphenyldiol Complex.
- Published in:
- Chemistry - An Asian Journal, 2008, v. 3, n. 8/9, p. 1500, doi. 10.1002/asia.200800035
- By:
- Publication type:
- Article
A recurrent mutation in the 5′-UTR of IFITM5 causes osteogenesis imperfecta type V.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 1980, doi. 10.1002/ajmg.a.36025
- By:
- Publication type:
- Article
A 36-year-old Man with Repeated Short-term Transient Hyperammonemia and Impaired Consciousness with a Confirmed Carbamoyl Phosphate Synthase 1 Gene Monoallelic Mutation.
- Published in:
- Internal Medicine, 2022, v. 61, n. 9, p. 1387, doi. 10.2169/internalmedicine.7961-21
- By:
- Publication type:
- Article
Molecular pathogenesis of a novel mutation, G108D, in short-chain acyl-CoA dehydrogenase identified in subjects with short-chain acyl-CoA dehydrogenase deficiency.
- Published in:
- Human Genetics, 2010, v. 127, n. 6, p. 619, doi. 10.1007/s00439-010-0822-7
- By:
- Publication type:
- Article
Letter to the Editor.
- Published in:
- European Journal of Haematology, 2001, v. 66, n. 1, p. 70
- By:
- Publication type:
- Article
Adipsic hypernatremia without hypothalamic lesions accompanied by autoantibodies to subfornical organ.
- Published in:
- Brain Pathology, 2017, v. 27, n. 3, p. 323, doi. 10.1111/bpa.12409
- By:
- Publication type:
- Article
Iron-Catalyst-Switched Selective Conjugate Addition of Grignard Reagents: α,β,γ,δ-Unsaturated Amides as Versatile Templates for Asymmetric Three-Component Coupling Processes.
- Published in:
- Angewandte Chemie, 2008, v. 120, n. 36, p. 6966, doi. 10.1002/ange.200801928
- By:
- Publication type:
- Article
Evaluation of Metabolic Defects in Fatty Acid Oxidation Using Peripheral Blood Mononuclear Cells Loaded with Deuterium-Labeled Fatty Acids.
- Published in:
- Disease Markers, 2019, p. 1, doi. 10.1155/2019/2984747
- By:
- Publication type:
- Article
Individual Clinically Diagnosed with CHARGE Syndrome but with a Mutation in KMT2D, a Gene Associated with Kabuki Syndrome: A Case Report.
- Published in:
- 2017
- By:
- Publication type:
- Case Study
ACCORDION-LIKE ARTERIAL SHADOWS OBSERVED ON THE ARTERIOGRAM.
- Published in:
- Angiology, 1973, v. 24, n. 7, p. 398, doi. 10.1177/000331977302400704
- By:
- Publication type:
- Article
Using the C14:1/Medium-Chain Acylcarnitine Ratio Instead of C14:1 to Reduce False-Positive Results for Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency in Newborn Screening in Japan.
- Published in:
- International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 1, p. 15, doi. 10.3390/ijns10010015
- By:
- Publication type:
- Article
Newborn Screening with (C16 + C18:1)/C2 and C14/C3 for Carnitine Palmitoyltransferase II Deficiency throughout Japan Has Revealed C12/C0 as an Index of Higher Sensitivity and Specificity.
- Published in:
- International Journal of Neonatal Screening (IJNS), 2023, v. 9, n. 4, p. 62, doi. 10.3390/ijns9040062
- By:
- Publication type:
- Article
Pilot Study on Neonatal Screening for Methylmalonic Acidemia Caused by Defects in the Adenosylcobalamin Synthesis Pathway and Homocystinuria Caused by Defects in Homocysteine Remethylation.
- Published in:
- International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 3, p. 1, doi. 10.3390/ijns7030039
- By:
- Publication type:
- Article
Current Perspectives on Neonatal Screening for Propionic Acidemia in Japan: An Unexpectedly High Incidence of Patients with Mild Disease Caused by a Common PCCB Variant.
- Published in:
- International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 3, p. 1, doi. 10.3390/ijns7030035
- By:
- Publication type:
- Article
Primary Carnitine Deficiency - A Rare Treatable Cause of Cardiomyopathy and Massive Hepatomegaly.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Iron-Catalyst-Switched Selective Conjugate Addition of Grignard Reagents: α,β,γ,δ-Unsaturated Amides as Versatile Templates for Asymmetric Three-Component Coupling Processes.
- Published in:
- Angewandte Chemie International Edition, 2008, v. 47, n. 36, p. 6860, doi. 10.1002/anie.200801928
- By:
- Publication type:
- Article