Mark R Garrelfs
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Explore the profile of Mark R Garrelfs including associated specialties, affiliations and a list of published articles.
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11
Citations
37
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Recent Articles
1.
Garrelfs M, Mooij C, Boelen A, van Trotsenburg A, Zwaveling-Soonawala N
Eur Thyroid J
. 2025 Feb;
14(1).
PMID: 39913280
Congenital hypothyroidism (CH) is defined as thyroid hormone deficiency at birth and constitutes one of the most common causes of preventable intellectual disability worldwide. Central CH is caused by insufficient...
2.
Celli L, Garrelfs M, Sakkers R, Elting M, Celli M, Bokenkamp A, et al.
Calcif Tissue Int
. 2024 Nov;
115(6):960-975.
PMID: 39535563
Osteogenesis Imperfecta (OI), known as "brittle bone disease," presents a rare genetic disorder characterized by bone fragility, often accompanied by skeletal deformities and extraskeletal complications. OI is primarily associated with...
3.
Zwama J, Rosenberg N, Verheij V, Raijmakers P, Yaqub M, Botman E, et al.
Biomolecules
. 2024 Oct;
14(10).
PMID: 39456213
Fibrodysplasia ossificans progressiva (FOP) is a rare genetic bone disorder characterized by episodic flare-ups in connective tissue, which are frequently followed by the formation of heterotopic ossification. The absence of...
4.
Lauffer P, Naafs J, Bikker H, Garrelfs M, Mooij C, Boelen A, et al.
Thyroid
. 2023 Mar;
33(7):880-884.
PMID: 36860195
No abstract available.
5.
Garrelfs M, Rinne T, Hillebrand J, Lauffer P, Bijlsma M, Claahsen-van der Grinten H, et al.
J Clin Res Pediatr Endocrinol
. 2022 Jul;
16(1):95-101.
PMID: 35848593
Isolated aldosterone synthase deficiency is a rare autosomal recessive disorder caused by pathogenic variants in , resulting in impaired aldosterone synthesis. We report on a neonate with isolated aldosterone synthase...
6.
Veenvliet A, Garrelfs M, Udink Ten Cate F, Ferdinandusse S, Denis S, Fuchs S, et al.
Mol Genet Metab Rep
. 2022 Jul;
31:100873.
PMID: 35782614
Isolated long-chain 3-keto-acyl CoA thiolase (LCKAT) deficiency is a rare long-chain fatty acid oxidation disorder caused by mutations in LCKAT is part of a multi-enzyme complex called the mitochondrial trifunctional...
7.
Lauffer P, Bikker H, Garrelfs M, Hillebrand J, de Sonnaville M, Zwaveling-Soonawala N, et al.
Thyroid
. 2021 Aug;
31(11):1757-1762.
PMID: 34382419
Pituitary resistance to thyroid hormone (PRTH) is often seen in congenital hypothyroidism (CH), presenting as elevated thyrotropin (TSH) values despite (high-)normal thyroid hormone (TH) values achieved by levothyroxine treatment. In...
8.
Garrelfs M, Takada S, Kamsteeg E, Pegge S, Mancini G, Engelen M, et al.
Pediatr Neurol
. 2020 Sep;
113:26-32.
PMID: 32980744
Background: We aimed to expand the number of currently known pathogenic PNKP mutations, to study the phenotypic spectrum, including radiological characteristics and genotype-phenotype correlations, and to assess whether immunodeficiency and...
9.
Garrelfs M, Hoppenreijs E, Tanke R
Cardiol Young
. 2019 Jan;
29(3):435-438.
PMID: 30681047
The NLRP1-associated autoinflammation with arthritis and dyskeratosis syndrome is a rare novel autoinflammatory disorder. Cardiac involvement has not been previously reported. We present a 12-year-old girl with NLRP1-associated autoinflammation with...
10.
Garrelfs M, Romeijn J, Heynens J
Ned Tijdschr Geneeskd
. 2015 Oct;
159:A9405.
PMID: 26469734
An 11-year-old girl was seen with painless, bilateral periorbital edema, that had appeared a week before presentation. Additional symptoms included fever, headache and malaise. Serological tests performed three days later...