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Diagnosing and treating anterior pituitary hormone deficiency in pediatric patients.
- Published in:
- Reviews in Endocrine & Metabolic Disorders, 2024, v. 25, n. 3, p. 555, doi. 10.1007/s11154-023-09868-4
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- Publication type:
- Article
CONSENSO ARGENTINO SOBRE LA TRANSICIÓN DE LOS CUIDADOS PEDIÁTRICOS A LOS CUIDADOS ADULTOS EN PACIENTES CON ENFERMEDADES CONGÉNITAS DEL METABOLISMO.
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- Actualización en Nutrición, 2023, v. 24, n. 3, p. 186, doi. 10.48061/SAN.2022.24.3.186
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- Publication type:
- Article
Galactose epimerase deficiency: lessons from the GalNet registry.
- Published in:
- 2022
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- Publication type:
- journal article
Targeted Next-Generation Sequencing of Congenital Hypothyroidism-Causative Genes Reveals Unexpected Thyroglobulin Gene Variants in Patients with Iodide Transport Defect.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 16, p. 9251, doi. 10.3390/ijms23169251
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- Publication type:
- Article
Mutational screening of the TPO and DUOX2 genes in Argentinian children with congenital hypothyroidism due to thyroid dyshormonogenesis.
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- Endocrine (1355008X), 2022, v. 77, n. 1, p. 86, doi. 10.1007/s12020-022-03054-3
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- Publication type:
- Article
An Intramolecular Ionic Interaction Linking Defective Sodium/Iodide Symporter Transport to the Plasma Membrane and Dyshormonogenic Congenital Hypothyroidism.
- Published in:
- Thyroid, 2022, v. 32, n. 1, p. 19, doi. 10.1089/thy.2021.0344
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- Publication type:
- Article
Improving safety in paediatric thyroidectomy by PTH measurements.
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- Clinical Endocrinology, 2021, v. 95, n. 5, p. 760, doi. 10.1111/cen.14552
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- Publication type:
- Article
Fenilcetonuria: perfil de atención y ejecutivo en pacientes con detección temprana y tratamiento adecuado.
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- Acta Pediatrica de Mexico, 2021, v. 42, n. 5, p. 233
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- Publication type:
- Article
Update on Neonatal Isolated Hyperthyrotropinemia: A Systematic Review.
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- Frontiers in Endocrinology, 2021, v. 12, p. 1, doi. 10.3389/fendo.2021.643307
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- Publication type:
- Article
Current Practices and Challenges in the Diagnosis and Management of PKU in Latin America: A Multicenter Survey.
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- Nutrients, 2021, v. 13, n. 8, p. 2566, doi. 10.3390/nu13082566
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- Publication type:
- Article
Novel Sodium/Iodide Symporter Compound Heterozygous Pathogenic Variants Causing Dyshormonogenic Congenital Hypothyroidism.
- Published in:
- Thyroid, 2019, v. 29, n. 7, p. 1023, doi. 10.1089/thy.2019.0046
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- Publication type:
- Article
Genetics and genomic medicine in Argentina.
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- Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 4, p. 481, doi. 10.1002/mgg3.455
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- Publication type:
- Article
Pilot Neonatal Screening Program for Central Congenital Hypothyroidism: Evidence of Significant Detection.
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- Hormone Research in Paediatrics, 2017, v. 88, n. 3/4, p. 274, doi. 10.1159/000480293
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- Publication type:
- Article
Prospective and Descriptive Study on Serum Androstenedione Concentration in Healthy Children from Birth until 18 Years of Age and Its Associated Factors.
- Published in:
- Disease Markers, 2017, p. 1, doi. 10.1155/2017/9238304
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- Publication type:
- Article
46, XX ovotesticular DSD associated with a SOX3 gene duplication in a SRY-negative boy.
- Published in:
- Clinical Endocrinology, 2016, v. 85, n. 4, p. 673, doi. 10.1111/cen.13126
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- Publication type:
- Article
Serum Concentration of 17α-Hydroxyprogesterone in Children from Birth to Adolescence.
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- Hormone Research in Paediatrics, 2014, v. 81, n. 2, p. 118, doi. 10.1159/000356906
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- Publication type:
- Article
Prevalence and Etiology of Congenital Hypothyroidism Detected through an Argentine Neonatal Screening Program (1997-2010).
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- Hormone Research in Paediatrics, 2013, v. 80, n. 3, p. 185, doi. 10.1159/000354409
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- Publication type:
- Article
Modelo de atención de pacientes con fenilcetonuria (PKU) en Argentina.
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- Acta Pediatrica de Mexico, 2012, v. 33, n. 6, p. 308
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- Publication type:
- Article
Spontaneous Termination of Ventricular Fibrillation in a Patient with Congenital Coronary Anomaly.
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- Congenital Heart Disease, 2012, v. 7, n. 6, p. E109, doi. 10.1111/j.1747-0803.2012.00663.x
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- Publication type:
- Article
Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes.
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- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 6, p. 1037, doi. 10.1007/s10545-012-9477-y
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- Publication type:
- Article
Erratum to: Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes.
- Published in:
- 2012
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- Publication type:
- Correction notice
Congenital goitrous hypothyroidism: mutation analysis in the thyroid peroxidase gene.
- Published in:
- Clinical Endocrinology, 2012, v. 76, n. 4, p. 568, doi. 10.1111/j.1365-2265.2011.04249.x
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- Publication type:
- Article
Variable clinical presentation and outcome in pediatric patients with resistance to thyroid hormone (RTH).
- Published in:
- Endocrine (1355008X), 2012, v. 41, n. 1, p. 130, doi. 10.1007/s12020-011-9518-6
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- Publication type:
- Article
Erratum to: Variable clinical presentation and outcome in pediatric patients with resistance to thyroid hormone (RTH).
- Published in:
- 2012
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- Publication type:
- Correction notice
Differentiated thyroid carcinoma: presentation and follow-up in children and adolescents.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2011, v. 24, n. 9/10, p. 743, doi. 10.1515/JPEM.2011.241
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- Publication type:
- Article
Clinical, biochemical, and molecular findings in Argentinean patients with goitrous congenital hypothyroidism.
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- Endocrine (1355008X), 2010, v. 38, n. 3, p. 377, doi. 10.1007/s12020-010-9391-8
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- Publication type:
- Article
Propylthiouracil-induced hepatotoxicity and death. Hopefully, never more.
- Published in:
- 2010
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- Publication type:
- editorial
Molecular analysis of congenital goitres with hypothyroidism caused by defective thyroglobulin synthesis. Identification of a novel c.7006C>T [p.R2317X] mutation and expression of minigenes containing nonsense mutations in exon 7.
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- Clinical Endocrinology, 2010, v. 72, n. 1, p. 112, doi. 10.1111/j.1365-2265.2009.03621.x
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- Publication type:
- Article
17α-Hydroxyprogesterone and Cortisol Serum Levels in Neonates and Young Children: Influence of Age, Gestational Age, Gender and Methodological Procedures.
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- Journal of Pediatric Endocrinology & Metabolism, 2010, v. 23, n. 1/2, p. 121
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- Publication type:
- Article
Thyroid Disorders of Neonates Born to Mothers with Graves' Disease.
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- Journal of Pediatric Endocrinology & Metabolism, 2009, v. 22, n. 6, p. 547, doi. 10.1515/JPEM.2009.22.6.547
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- Publication type:
- Article
Neonatal Screening for Congenital Adrenal Hyperplasia: Experience and Results in Argentina.
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- Journal of Pediatric Endocrinology & Metabolism, 2008, v. 21, n. 1, p. 73, doi. 10.1515/jpem.2008.21.1.73
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- Publication type:
- Article
Congenital hypothyroidism with goitre caused by new mutations in the thyroglobulin gene.
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- Clinical Endocrinology, 2007, v. 67, n. 3, p. 351, doi. 10.1111/j.1365-2265.2007.02889.x
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- Publication type:
- Article
Two compound heterozygous mutations (c.215delA/c.2422T→C and c.387delC/c.1159G→A) in the thyroid peroxidase gene responsible for congenital goitre and iodide organification defect.
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- Clinical Endocrinology, 2007, v. 67, n. 2, p. 238, doi. 10.1111/j.1365-2265.2007.02869.x
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- Publication type:
- Article
Efficacy of Congenital Hypothyroidism Neonatal Screening in Preterms less than 32 Weeks of Gestational Age: More Evidence.
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- Journal of Pediatric Endocrinology & Metabolism, 2005, v. 18, n. 4, p. 373, doi. 10.1515/jpem.2005.18.4.373
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- Publication type:
- Article
Pediatric Graves' Disease: Outcome and Treatment.
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- Journal of Pediatric Endocrinology & Metabolism, 2003, v. 16, n. 9, p. 1249, doi. 10.1515/jpem.2003.16.9.1249
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- Publication type:
- Article
Five novel inactivating mutations in the thyroid peroxidase gene responsible for congenital goiter and iodide organification defectCommunicated by Mark H. PaalmanOnline Citation:Human Mutation, Mutation in Brief #646 (2003) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/646.pdf
- Published in:
- Human Mutation, 2003, v. 22, n. 3, p. 259, doi. 10.1002/humu.9175
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- Publication type:
- Article
Five novel inactivating mutations in the thyroid peroxidase gene responsible for congenital goiter and iodide organification defect (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #646 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/646.pdf)
- Published in:
- Human Mutation, 2003, v. 22, n. 3, p. 259, doi. 10.1002/humu.9175
- By:
- Publication type:
- Article
Congenital Secondary Hypothyroidism Due to a Mutation C105Vfs114X Thyrotropin-β Mutation: Genetic Study of Five Unrelated Families from Switzerland and Argentina.
- Published in:
- Thyroid, 2003, v. 13, n. 6, p. 553
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- Publication type:
- Article
Congenital adrenal hyperplasia and early newborn screening: 17α-hydroxyprogesterone (17α-OHP) during the first days of life.
- Published in:
- Journal of Medical Screening, 1998, v. 5, n. 1, p. 24, doi. 10.1136/jms.5.1.24
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- Publication type:
- Article
Final Height in Long-term Primary Hypothyroid Children.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 1998, v. 11, n. 1, p. 51, doi. 10.1515/jpem.1998.11.1.51
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- Publication type:
- Article
A New Point Mutation (M313T) in the Thyroid Hormone Receptor β Gene in a Patient with Resistance to Thyroid Hormone.
- Published in:
- Thyroid, 1997, v. 7, n. 1, p. 43, doi. 10.1089/thy.1997.7.43
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- Publication type:
- Article
Growth Follow-up in 100 Children with Congenital Hypothyroidism Before and During Treatment.
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- Journal of Pediatric Endocrinology & Metabolism, 1994, v. 7, n. 3, p. 211, doi. 10.1515/jpem.1994.7.3.211
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- Publication type:
- Article