Low free thyroxine and normal thyroid-stimulating hormone in infants and children: possible causes and diagnostic work-up

por Lauffer, Peter, van Trotsenburg, A. S. Paul, Zwaveling-Soonawala, Nitash
Publicado 2021

Neonatal screening for primary and central congenital hypothyroidism: is it time to go Dutch?

por Boelen, Anita, Zwaveling-Soonawala, Nitash, Heijboer, Annemieke C, van Trotsenburg, A S Paul
Publicado 2023

Diagnosis and Management of Central Congenital Hypothyroidism

por Lauffer, Peter, Zwaveling-Soonawala, Nitash, Naafs, Jolanda C., Boelen, Anita, van Trotsenburg, A. S. Paul
Publicado 2021

A Novel IGSF1 Mutation in a Boy With Short Stature and Hypercholesterolemia: A Case Report

por Heinen, Charlotte A., Zwaveling-Soonawala, Nitash, Fliers, Eric, Turgeon, Marc-Olivier, Bernard, Daniel J., van Trotsenburg, A.S. Paul
Publicado 2017

Health-Related Quality of Life in Patients With Early-Detected Central Congenital Hypothyroidism

por Naafs, Jolanda C, Marchal, Jan Pieter, Verkerk, Paul H, Fliers, Eric, van Trotsenburg, A S Paul, Zwaveling-Soonawala, Nitash
Publicado 2021

The Effect of Pre-Thyroidectomy Calcitriol Prophylaxis on Post-Thyroidectomy Hypocalcaemia in Children

por Vendrig, Lisanne M., Mooij, Christiaan F., Derikx, Joep P.M., Fischer, Johannes C., van Trotsenburg, A.S. Paul, Zwaveling-Soonawala, Nitash
Publicado 2022

Cognitive and Motor Outcome in Patients with Early-Detected Central Congenital Hypothyroidism Compared with Siblings

por Naafs, Jolanda C, Marchal, Jan Pieter, Fliers, Eric, Verkerk, Paul H, Luijten, Michiel A J, Boelen, Anita, van Trotsenburg, A S Paul, Zwaveling-Soonawala, Nitash
Publicado 2020

Temple Syndrome: Clinical Findings, Body Composition and Cognition in 15 Patients

por Juriaans, Alicia F., Kerkhof, Gerthe F., Mahabier, Eva F., Sas, Theo C. J., Zwaveling-Soonawala, Nitash, Touwslager, Robbert N. H., Rotteveel, Joost, Hokken-Koelega, Anita C. S.
Publicado 2022

Pasireotide treatment for severe congenital hyperinsulinism due to a homozygous ABCC8 mutation

por Mooij, Christiaan F., Tacke, Carline E., van Albada, Mirjam E., Barthlen, Winfried, Bikker, Hennie, Mohnike, Klaus, Oomen, Matthijs W.N., van Trotsenburg, A.S. Paul, Zwaveling-Soonawala, Nitash
Publicado 2021

Widespread domain-like perturbations of DNA methylation in whole blood of Down syndrome neonates

por Henneman, Peter, Bouman, Arjan, Mul, Adri, Knegt, Lia, van der Kevie-Kersemaekers, Anne-Marie, Zwaveling-Soonawala, Nitash, Meijers-Heijboer, Hanne E. J., van Trotsenburg, A. S. Paul, Mannens, Marcel M.
Publicado 2018

Tocilizumab for the fifth progression of cystic childhood craniopharyngioma—a case report

por de Vos-Kerkhof, Evelien, Buis, Dennis R., Lequin, Maarten H., Bennebroek, Carlien A., Aronica, Eleonora, Hulleman, Esther, Zwaveling-Soonawala, Nitash, van Santen, Hanneke M., Schouten-van Meeteren, Antoinette Y. N.
Publicado 2023

Complications After Thyroidectomy in Children: Lymph Node Dissection Is a Risk Factor for Permanent Hypocalcemia

por van Rooijen, Jesse J., van Trotsenburg, A. S. Paul, van de Berg, Daniël J., Zwaveling-Soonawala, Nitash, Nieveen van Dijkum, Els J. M., Engelsman, Anton F., Derikx, Joep P. M., Mooij, Christiaan F.
Publicado 2021

Mutations in IRS4 are associated with central hypothyroidism

por Heinen, Charlotte A, de Vries, Emmely M, Alders, Mariëlle, Bikker, Hennie, Zwaveling-Soonawala, Nitash, van den Akker, Erica L T, Bakker, Boudewijn, Hoorweg-Nijman, Gera, Roelfsema, Ferdinand, Hennekam, Raoul C, Boelen, Anita, van Trotsenburg, A S Paul, Fliers, Eric
Publicado 2018

Optimizing the Dutch newborn screening for congenital hypothyroidism by incorporating amino acids and acylcarnitines in a machine learning-based model

por Jansen, Heleen I, van Haeringen, Marije, Bouva, Marelle J, den Elzen, Wendy P J, Bruinstroop, Eveline, van der Ploeg, Catharina P B, van Trotsenburg, A S Paul, Zwaveling-Soonawala, Nitash, Heijboer, Annemieke C, Bosch, Annet M, de Jonge, Robert, Hoogendoorn, Mark, Boelen, Anita
Publicado 2023

Mutations in TBL1X Are Associated With Central Hypothyroidism

por Heinen, Charlotte A., Losekoot, Monique, Sun, Yu, Watson, Peter J., Fairall, Louise, Joustra, Sjoerd D., Zwaveling-Soonawala, Nitash, Oostdijk, Wilma, van den Akker, Erica L. T., Alders, Mariëlle, Santen, Gijs W. E., van Rijn, Rick R., Dreschler, Wouter A., Surovtseva, Olga V., Biermasz, Nienke R., Hennekam, Raoul C., Wit, Jan M., Schwabe, John W. R., Boelen, Anita, Fliers, Eric, van Trotsenburg, A. S. Paul
Publicado 2016