Found: 14
Select item for more details and to access through your institution.
Paroxysmal cold hemoglobinuria caused by an IgM-class Donath- Landsteiner antibody.
- Published in:
- Pediatrics International, 2013, v. 55, n. 5, p. 664, doi. 10.1111/ped.12110
- By:
- Publication type:
- Article
Biotin and carnitine profiles in preterm infants in Japan.
- Published in:
- Pediatrics International, 2013, v. 55, n. 3, p. 342, doi. 10.1111/ped.12053
- By:
- Publication type:
- Article
Urinary oxidative stress markers in young patients with type 1 diabetes.
- Published in:
- Pediatrics International, 2006, v. 48, n. 1, p. 58, doi. 10.1111/j.1442-200X.2006.02156.x
- By:
- Publication type:
- Article
Salivary-type hyperamylasemia in theophylline poisoning.
- Published in:
- Pediatrics International, 2005, v. 47, n. 2, p. 209, doi. 10.1111/j.1442-200x.2005.02029.x
- By:
- Publication type:
- Article
A case of dyshormonogenetic goiter complicated with growth hormone deficiency.
- Published in:
- Pediatrics International, 1997, v. 39, n. 1, p. 83, doi. 10.1111/j.1442-200X.1997.tb03562.x
- By:
- Publication type:
- Article
Pregnancy outcome of Japanese patients with glucokinase–maturity‐onset diabetes of the young.
- Published in:
- Journal of Diabetes Investigation, 2019, v. 10, n. 6, p. 1586, doi. 10.1111/jdi.13046
- 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
A case of an infant with extremely low birth weight and hypothyroidism associated with massive cutaneous infantile hemangioma.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2018, v. 31, n. 12, p. 1377, doi. 10.1515/jpem-2018-0369
- By:
- Publication type:
- Article
A new diagnostic indication device of a biomarker growth differentiation factor 15 for mitochondrial diseases: From laboratory to automated inspection.
- Published in:
- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 2, p. 358, doi. 10.1002/jimd.12317
- By:
- Publication type:
- Article
Useful second-tier tests in expanded newborn screening of isovaleric acidemia and methylmalonic aciduria.
- Published in:
- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 283, doi. 10.1007/s10545-010-9111-9
- 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
Pitfall in the Diagnosis of Fructose-1,6-Bisphosphatase Deficiency: Difficulty in Detecting Glycerol-3-Phosphate with Solvent Extraction in Urinary GC/MS Analysis.
- Published in:
- Tohoku Journal of Experimental Medicine, 2015, v. 237, n. 3, p. 235, doi. 10.1620/tjem.237.235
- By:
- Publication type:
- Article
National survey of Japanese patients with mevalonate kinase deficiency reveals distinctive genetic and clinical characteristics.
- Published in:
- Modern Rheumatology, 2019, v. 29, n. 1, p. 181, doi. 10.1080/14397595.2018.1442639
- By:
- Publication type:
- Article
Novel mutations of MVK gene in Japanese family members affected with hyperimmunoglobulinemia D and periodic fever syndrome.
- Published in:
- Rheumatology International, 2012, v. 32, n. 12, p. 3761, doi. 10.1007/s00296-011-2225-z
- By:
- Publication type:
- Article