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Elevated Bile Acid 3β,5α,6β-Trihydroxycholanoyl Glycine in a Subset of Adult Ataxias Including Niemann–Pick Type C.
- Published in:
- Antioxidants, 2024, v. 13, n. 5, p. 561, doi. 10.3390/antiox13050561
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- Publication type:
- Article
Gene Expression Signatures Predict First-Year Response to Somapacitan Treatment in Children With Growth Hormone Deficiency.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2024, v. 109, n. 5, p. 1214, doi. 10.1210/clinem/dgad717
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- Publication type:
- Article
New Perspectives in Dried Blood Spot Biomarkers for Lysosomal Storage Diseases.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 12, p. 10177, doi. 10.3390/ijms241210177
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- Publication type:
- Article
Response to Letter to the Editor From Virú-Loza and Chávez-Nomberto: "Safety and Efficacy of Pediatric Growth Hormone Therapy: Results From the Full KIGS Cohort".
- Published in:
- 2023
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- Publication type:
- Letter to the Editor
Growth of twins conceived using assisted reproductive treatments up to 5 years old: a national growth cohort.
- Published in:
- Human Reproduction, 2023, v. 38, n. 4, p. 751, doi. 10.1093/humrep/dead018
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- Publication type:
- Article
Approach to the Patient With Short Stature: Genetic Testing.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2023, v. 108, n. 4, p. 1007, doi. 10.1210/clinem/dgac637
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- Publication type:
- Article
Safety and Efficacy of Pediatric Growth Hormone Therapy: Results From the Full KIGS Cohort.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 12, p. 3287, doi. 10.1210/clinem/dgac517
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- Publication type:
- Article
The effect of ethnicity, maternal and early life anthropometry on cardiac structure and function in later childhood.
- Published in:
- Cardiology in the Young, 2022, v. 32, p. S129
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- Publication type:
- Article
Safety of growth hormone replacement in survivors of cancer and intracranial and pituitary tumours: a consensus statement.
- Published in:
- European Journal of Endocrinology, 2022, v. 186, n. 6, p. P35, doi. 10.1530/eje-21-1186
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- Publication type:
- Article
The effect of ethnicity, maternal and early life anthropometry on cardiac structure and function in later childhood.
- Published in:
- Cardiology in the Young, 2022, v. 32, n. S2, p. S129, doi. 10.1017/S1047951122001950
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- Publication type:
- Article
Role of ZBTB38 Genotype and Expression in Growth and Response to Recombinant Human Growth Hormone Treatment.
- Published in:
- Journal of the Endocrine Society, 2022, v. 6, n. 3, p. 1, doi. 10.1210/jendso/bvac006
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- Publication type:
- Article
Tissue Proteome of 2-Hydroxyacyl-CoA Lyase Deficient Mice Reveals Peroxisome Proliferation and Activation of ω-Oxidation.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 2, p. 987, doi. 10.3390/ijms23020987
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- Publication type:
- Article
Characterization of Novel Pathogenic Variants Causing Pyridox(am)ine 5′-Phosphate Oxidase-Dependent Epilepsy.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 21, p. 12013, doi. 10.3390/ijms222112013
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- Publication type:
- Article
Acute Illness and Death in Children With Adrenal Insufficiency.
- Published in:
- Frontiers in Endocrinology, 2021, v. 12, p. 1, doi. 10.3389/fendo.2021.757566
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- Publication type:
- Article
Pharmacogenomics applied to recombinant human growth hormone responses in children with short stature.
- Published in:
- Reviews in Endocrine & Metabolic Disorders, 2021, v. 22, n. 1, p. 135, doi. 10.1007/s11154-021-09637-1
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- Publication type:
- Article
Consensus guidelines for the diagnosis and management of pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency.
- Published in:
- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 1, p. 178, doi. 10.1002/jimd.12332
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- Publication type:
- Article
Novel Mutations and Genes That Impact on Growth in Short Stature of Undefined Aetiology: The EPIGROW Study.
- Published in:
- Journal of the Endocrine Society, 2020, v. 4, n. 10, p. 1, doi. 10.1210/jendso/bvaa105
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- Publication type:
- Article
Painting in Antiquity: Ancient Egypt in the Art of Lawrence Alma-Tadema, Edward Poynter and Edwin Long.
- Published in:
- 2020
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- Publication type:
- Book Review
Rameses III King of Egypt: His Life and Afterlife.
- Published in:
- 2020
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- Publication type:
- Book Review
Is susceptibility to severe COVID‐19 disease an inborn error of metabolism?
- Published in:
- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 5, p. 906, doi. 10.1002/jimd.12280
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- Publication type:
- Article
The effectiveness of correcting abnormal metabolic profiles.
- Published in:
- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 1, p. 2, doi. 10.1002/jimd.12139
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- Publication type:
- Article
Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia.
- Published in:
- 2019
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- Publication type:
- journal article
Structural Determination of Lysosphingomyelin-509 and Discovery of Novel Class Lipids from Patients with Niemann–Pick Disease Type C.
- Published in:
- International Journal of Molecular Sciences, 2019, v. 20, n. 20, p. 5018, doi. 10.3390/ijms20205018
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- Publication type:
- Article
Wonderful Things. A History of Egyptology 3: from 1914 to the twenty-first century.
- Published in:
- 2019
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- Publication type:
- Book Review
Disorders affecting vitamin B<sub>6</sub> metabolism.
- Published in:
- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 4, p. 629, doi. 10.1002/jimd.12060
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- Publication type:
- Article
Wonderful Things: A History of Egyptology 3: From 1914 to the Twenty-first Century.
- Published in:
- 2019
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- Publication type:
- Book Review
Maternal glucose levels during pregnancy and childhood adiposity in the Hyperglycemia and Adverse Pregnancy Outcome Follow-up Study.
- Published in:
- Diabetologia, 2019, v. 62, n. 4, p. 598, doi. 10.1007/s00125-018-4809-6
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- Publication type:
- Article
Hyperglycemia and Adverse Pregnancy Outcome Follow-up Study (HAPO FUS): Maternal Gestational Diabetes Mellitus and Childhood Glucose Metabolism.
- Published in:
- 2019
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- Publication type:
- journal article
Hyperglycemia and Adverse Pregnancy Outcome Follow-up Study (HAPO FUS): Maternal Glycemia and Childhood Glucose Metabolism.
- Published in:
- 2019
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- Publication type:
- journal article
The growth of assisted reproductive treatment-conceived children from birth to 5 years: a national cohort study.
- Published in:
- 2018
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- Publication type:
- journal article
Association of Gestational Diabetes With Maternal Disorders of Glucose Metabolism and Childhood Adiposity.
- Published in:
- 2018
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- Publication type:
- journal article
Risk of Meningioma in European Patients Treated With Growth Hormone in Childhood: Results From the SAGhE Cohort.
- Published in:
- 2018
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- Publication type:
- journal article
SNX14 mutations affect endoplasmic reticulum-associated neutral lipid metabolism in autosomal recessive spinocerebellar ataxia 20.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 11, p. 1927, doi. 10.1093/hmg/ddy101
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- Publication type:
- Article
Phenotypic spectrum and responses to recombinant human IGF1 (rhIGF1) therapy in patients with homozygous intronic pseudoexon growth hormone receptor mutation.
- Published in:
- European Journal of Endocrinology, 2018, v. 178, n. 5, p. 481, doi. 10.1530/EJE-18-0042
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- Publication type:
- Article
The Oxford Handbook of the Valley of the Kings.
- Published in:
- 2017
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- Publication type:
- Book Review
Inherited disorders of transition metal metabolism: an update.
- Published in:
- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 4, p. 519, doi. 10.1007/s10545-017-0030-x
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- Publication type:
- Article
Mutations in SLC25A22: hyperprolinaemia, vacuolated fibroblasts and presentation with developmental delay.
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- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 3, p. 385, doi. 10.1007/s10545-017-0025-7
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- Publication type:
- Article
Social, educational and vocational outcomes in patients with childhood-onset and young-adult-onset growth hormone deficiency.
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- Clinical Endocrinology, 2017, v. 86, n. 4, p. 526, doi. 10.1111/cen.13291
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- Publication type:
- Article
Quality and stability of extemporaneous pyridoxal phosphate preparations used in the treatment of paediatric epilepsy.
- Published in:
- Journal of Pharmacy & Pharmacology, 2017, v. 69, n. 4, p. 480, doi. 10.1111/jphp.12701
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- Publication type:
- Article
The neuroendocrine sequelae of paediatric craniopharyngioma: a 40-year meta-data analysis of 185 cases from three UK centres.
- Published in:
- European Journal of Endocrinology, 2017, v. 176, n. 3, p. 359, doi. 10.1530/EJE-16-0812
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- Publication type:
- Article
Cancer Risks in Patients Treated With Growth Hormone in Childhood: The SAGhE European Cohort Study.
- Published in:
- 2017
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- Publication type:
- journal article
Validating genetic markers of response to recombinant human growth hormone in children with growth hormone deficiency and Turner syndrome: the PREDICT validation study.
- Published in:
- European Journal of Endocrinology, 2016, v. 175, n. 6, p. 633, doi. 10.1530/EJE-16-0357
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- Publication type:
- Article
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
- Published in:
- 2016
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- Publication type:
- journal article
Readers' letters.
- Published in:
- 2016
- By:
- Publication type:
- Letter to the Editor
Mummies, Magic and Medicine in Ancient Egypt.
- Published in:
- 2016
- By:
- Publication type:
- Book Review
TRNT1 deficiency: clinical, biochemical and molecular genetic features.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Growth Hormone Deficiency in Prepubertal Children: Predictive Markers of Cardiovascular Disease.
- Published in:
- Hormone Research in Paediatrics, 2016, v. 85, n. 6, p. 363, doi. 10.1159/000444143
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- Publication type:
- Article
Bond strength of resin cements to leucitereinforced ceramics: part 2 - after one-year aging in water.
- Published in:
- RSBO: Revista Sul-Brasileira de Odontologia, 2016, v. 13, n. 3, p. 156
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- Publication type:
- Article
Wonderful Things: A History of Egyptology 2, The Golden Age 1881-1914.
- Published in:
- 2016
- By:
- Publication type:
- Book Review
Identification of novel bile acids as biomarkers for the early diagnosis of Niemann-Pick C disease.
- Published in:
- FEBS Letters, 2016, v. 590, n. 11, p. 1651, doi. 10.1002/1873-3468.12196
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- Publication type:
- Article