Mark R. Garrelfs

Amsterdam, NH 1105AZ, Netherlands

Last Updated: 09/26/2026

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Found 14 publications

Correct neonatal free thyroxine reference intervals are crucial to detect central congenital hypothyroidism.

Correct neonatal free thyroxine reference intervals are crucial to detect central congenital hypothyroidism.

Journal: European journal of endocrinology
Published: January 28, 2026

Transient Neonatal Hypothyroidism Followed by Hyperthyroidism Due to Maternal Thyrotropin Receptor Antibodies.

Transient Neonatal Hypothyroidism Followed by Hyperthyroidism Due to Maternal Thyrotropin Receptor Antibodies.

Journal: JCEM case reports
Published: November 20, 2024

Newborn screening for central congenital hypothyroidism: past, present and future.

Newborn screening for central congenital hypothyroidism: past, present and future.

Journal: European thyroid journal
Published: October 14, 2024

Adapting to Adulthood: A Review of Transition Strategies for Osteogenesis Imperfecta.

Adapting to Adulthood: A Review of Transition Strategies for Osteogenesis Imperfecta.

Journal: Calcified tissue international
Published: September 30, 2024

[18F]NaF PET/CT as a Marker for Fibrodysplasia Ossificans Progressiva: From Molecular Mechanisms to Clinical Applications in Bone Disorders.

[18F]NaF PET/CT as a Marker for Fibrodysplasia Ossificans Progressiva: From Molecular Mechanisms to Clinical Applications in Bone Disorders.

Journal: Biomolecules
Published: August 15, 2024

Schaaf-Yang Syndrome: Clinical Phenotype and Effects of 4 years of Growth Hormone Treatment.

Schaaf-Yang Syndrome: Clinical Phenotype and Effects of 4 years of Growth Hormone Treatment.

Journal: Hormone research in paediatrics
Published: April 21, 2023

Further Delineation of Central Congenital Hypothyroidism due to Variants in TBL1X and IRS4.

Further Delineation of Central Congenital Hypothyroidism due to Variants in TBL1X and IRS4.

Journal: Thyroid : official journal of the American Thyroid Association
Published: March 02, 2023

Identification of a Novel CYP11B2 Variant in a Family with Varying Degrees of Aldosterone Synthase Deficiency

Identification of a Novel CYP11B2 Variant in a Family with Varying Degrees of Aldosterone Synthase Deficiency

Journal: Journal of clinical research in pediatric endocrinology
Published: July 18, 2022

Neonatal Long-Chain 3-Ketoacyl-CoA Thiolase deficiency: Clinical-biochemical phenotype, sodium-D,L-3-hydroxybutyrate treatment experience and cardiac evaluation using speckle echocardiography.

Neonatal Long-Chain 3-Ketoacyl-CoA Thiolase deficiency: Clinical-biochemical phenotype, sodium-D,L-3-hydroxybutyrate treatment experience and cardiac evaluation using speckle echocardiography.

Journal: Molecular genetics and metabolism reports
Published: April 16, 2022

Defective Levothyroxine Response in a Patient with Dyshormonogenic Congenital Hypothyroidism Caused by a Concurrent Pathogenic Variant in Thyroid Hormone Receptor-β.

Defective Levothyroxine Response in a Patient with Dyshormonogenic Congenital Hypothyroidism Caused by a Concurrent Pathogenic Variant in Thyroid Hormone Receptor-β.

Journal: Thyroid : official journal of the American Thyroid Association
Published: August 12, 2021

The Phenotypic Spectrum of PNKP-Associated Disease and the Absence of Immunodeficiency and Cancer Predisposition in a Dutch Cohort.

The Phenotypic Spectrum of PNKP-Associated Disease and the Absence of Immunodeficiency and Cancer Predisposition in a Dutch Cohort.

Journal: Pediatric neurology
Published: May 05, 2020

Transient left bundle branch block and left ventricular dysfunction in a patient with NLRP1-associated autoinflammation with arthritis and dyskeratosis syndrome.

Transient left bundle branch block and left ventricular dysfunction in a patient with NLRP1-associated autoinflammation with arthritis and dyskeratosis syndrome.

Journal: Cardiology in the young
Published: January 26, 2019
Showing 1-12 of 14

Last Updated: 09/26/2026