Found: 10
Select item for more details and to access through your institution.
A Gain-of-Function Mutation on BCKDK Gene and Its Possible Pathogenic Role in Branched-Chain Amino Acid Metabolism.
- Published in:
- Genes, 2022, v. 13, n. 2, p. 233, doi. 10.3390/genes13020233
- By:
- Publication type:
- Article
Congenital hypothyroidism with delayed TSH elevation in low-birth-weight infants: incidence, diagnosis and management.
- Published in:
- European Journal of Endocrinology, 2016, v. 175, n. 5, p. 395, doi. 10.1530/EJE-15-1233
- By:
- Publication type:
- Article
Children with premature pubarche: is an alterated neonatal 17-Ohp screening test a predictive factor?
- Published in:
- Italian Journal of Pediatrics, 2018, v. 44, p. 1, doi. 10.1186/s13052-018-0444-6
- By:
- Publication type:
- Article
Twenty Years of Neonatal Screening for Congenital Adrenal Hyperplasia in North-Eastern Italy: Role of Liquid Chromatography-Tandem Mass Spectrometry as a Second-Tier Test.
- Published in:
- Hormone Research in Paediatrics, 2022, v. 95, n. 3, p. 255, doi. 10.1159/000524170
- By:
- Publication type:
- Article
Multiple acyl-COA dehydrogenase deficiency in elderly carriers.
- Published in:
- Journal of Neurology, 2020, v. 267, n. 5, p. 1414, doi. 10.1007/s00415-020-09729-z
- By:
- Publication type:
- Article
Subclinical Hypothyroidism in Children and Adolescents: A Wide Range of Clinical, Biochemical, and Genetic Factors Involved.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2009, v. 94, n. 7, p. 2414, doi. 10.1210/jc.2009-0375
- By:
- Publication type:
- Article
Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience.
- Published in:
- International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 3, p. N.PAG, doi. 10.3390/ijns8030047
- By:
- Publication type:
- Article
Functional studies of new TSH receptor (TSHr) mutations identified in patients affected by hypothyroidism or isolated hyperthyrotrophinaemia.
- Published in:
- Clinical Endocrinology, 2009, v. 70, n. 2, p. 335, doi. 10.1111/j.1365-2265.2008.03333.x
- By:
- Publication type:
- Article
Thyrotropin receptor gene mutations and TSH resistance: variable expressivity in the heterozygotes.
- Published in:
- Clinical Endocrinology, 2005, v. 63, n. 2, p. 146, doi. 10.1111/j.1365-2265.2005.02314.x
- By:
- Publication type:
- Article
High-protein goat's milk diet identified through newborn screening: clinical warning of a potentially dangerous dietetic practice.
- Published in:
- 2017
- By:
- Publication type:
- journal article