Peter M van Hasselt
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Explore the profile of Peter M van Hasselt including associated specialties, affiliations and a list of published articles.
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121
Citations
1965
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Recent Articles
1.
Hoytema van Konijnenburg E, Rohof J, Kok G, van Hasselt P, van Karnebeek C, Muffels I, et al.
J Inherit Metab Dis
. 2025 Mar;
48(2):e70017.
PMID: 40044141
Aminoacyl-transfer RNA (tRNA) synthetases (ARSs) are key enzymes for protein translation. The number of identified patients with recessive ARS1 deficiencies is rapidly increasing. Initially, only supportive care was available, but...
2.
Muffels I, Rodenburg R, Willemen H, van Haaften-Visser D, Waterham H, Eijkelkamp N, et al.
iScience
. 2025 Jan;
28(1):111496.
PMID: 39801833
Traditional classification by clinical phenotype or oxidative phosphorylation (OXPHOS) complex deficiencies often fails to clarify complex genotype-phenotype correlations in mitochondrial disease. A multimodal functional assessment may better reveal underlying disease...
3.
Balfoort B, Van den Broeck F, Boon C, Brouwers M, Diederen R, Dhillon P, et al.
J Inherit Metab Dis
. 2025 Jan;
48(1):e12842.
PMID: 39761806
Gyrate atrophy of the choroid and retina (GACR, OMIM #258870) is a rare inherited metabolic disorder characterized by progressive chorioretinal degeneration and hyperornithinemia. Current therapeutic modalities potentially slow disease progression...
4.
Saarela D, Lis P, Gomes S, Nirujogi R, Dong W, Rawat E, et al.
J Clin Invest
. 2024 Dec;
135(4).
PMID: 39724071
Lysosomes are implicated in a wide spectrum of human diseases, including monogenic lysosomal storage disorders (LSDs), age-associated neurodegeneration, and cancer. Profiling lysosomal content using tag-based lysosomal immunoprecipitation (LysoTagIP) in cell...
5.
Ferreira E, Hofstede F, Haijes-Siepel H, Lichtenbelt K, Pistorius L, de Sain-van der Velden M, et al.
Genet Med Open
. 2024 Dec;
2:101853.
PMID: 39669634
Purpose: Molybdenum cofactor deficiency (MoCD) classically presents shortly after birth, with neurological symptoms ascribed to postnatal toxicity of accumulating sulphite. Case reports suggest that cerebral damage associated with MoCD may...
6.
Ayuso-Garcia P, Sanchez-Rueda A, Velasco-Aviles S, Tamayo-Caro M, Ferrer-Pinos A, Huarte-Sebastian C, et al.
Sci Adv
. 2024 Apr;
10(15):eadm7600.
PMID: 38608019
Myelination is essential for neuronal function and health. In peripheral nerves, >100 causative mutations have been identified that cause Charcot-Marie-Tooth disease, a disorder that can affect myelin sheaths. Among these,...
7.
Bhat S, Rousseau J, Michaud C, Lourenco C, Stoler J, Louie R, et al.
Am J Hum Genet
. 2024 Mar;
111(4):761-777.
PMID: 38503299
Ion channels mediate voltage fluxes or action potentials that are central to the functioning of excitable cells such as neurons. The KCNB family of voltage-gated potassium channels (Kv) consists of...
8.
Al-Saady M, Galabova H, Schoenmakers D, Beerepoot S, Lindemans C, van Hasselt P, et al.
J Inherit Metab Dis
. 2024 Mar;
47(4):792-804.
PMID: 38430011
Metachromatic leukodystrophy (MLD) is an inherited lysosomal storage disorder characterized by arylsulfatase A (ASA) deficiency, leading to sulfatide accumulation and myelin degeneration in the central nervous system. While primarily considered...
9.
Eskandari S, Revenich E, Pot D, de Boer F, Bierings M, van Spronsen F, et al.
N Engl J Med
. 2024 Feb;
390(7):623-629.
PMID: 38354141
Wolman's disease, a severe form of lysosomal acid lipase deficiency, leads to pathologic lipid accumulation in the liver and gut that, without treatment, is fatal in infancy. Although continued enzyme-replacement...
10.
Al-Saady M, Beerepoot S, Plug B, Breur M, Galabova H, Pouwels P, et al.
Ann Clin Transl Neurol
. 2023 May;
10(7):1146-1159.
PMID: 37212343
Objective: Metachromatic leukodystrophy is a lysosomal storage disease caused by deficient arylsulfatase A. It is characterized by progressive demyelination and thus mainly affects the white matter. Hematopoietic stem cell transplantation...