Jaap W Groothoff
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Explore the profile of Jaap W Groothoff including associated specialties, affiliations and a list of published articles.
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Articles
132
Citations
2387
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Recent Articles
1.
Sellier-Leclerc A, Magen D, Shasha-Lavsky H, Simkova E, Devresse A, Guebre-Egziabher F, et al.
Am J Kidney Dis
. 2025 Mar;
PMID: 40086686
No abstract available.
2.
Deesker L, Oubram L, Almardini R, Baum M, Bonilla-Felix M, Figueres L, et al.
Nephrol Dial Transplant
. 2025 Feb;
PMID: 39984743
Background And Hypothesis: Primary hyperoxaluria (PH) is a rare disorder with significant morbidity and mortality if left untreated. Given the rarity, global inequities in diagnostics and treatment are expected. Recently...
3.
Rosenberg N, Manders E, van den Berg S, Deesker L, Garrelfs S, de Visser S, et al.
Orphanet J Rare Dis
. 2024 Dec;
19(1):485.
PMID: 39716306
Background: The combination of high prices and uncertain effectiveness is a growing challenge in the field of orphan medicines, hampering health technology assessments. Hence, new methods for establishing price benchmarks...
4.
Wanders R, Groothoff J, Deesker L, Salido E, Garrelfs S
J Inherit Metab Dis
. 2024 Nov;
48(1):e12817.
PMID: 39582099
Glyoxylate is a toxic metabolite because of its rapid conversion into oxalate, as catalyzed by the ubiquitous enzyme lactate dehydrogenase. This requires the presence of efficient glyoxylate detoxification systems in...
5.
Cellini B, Baum M, Frishberg Y, Groothoff J, Harris P, Hulton S, et al.
Kidney Int Rep
. 2024 Nov;
9(11):3083-3096.
PMID: 39534212
Hyperoxaluria is a condition in which there is a pathologic abundance of oxalate in the urine through either hepatic overproduction (primary hyperoxaluria [PH]) or excessive enteric absorption of dietary oxalate...
6.
Deesker L, Karacoban H, Metry E, Garrelfs S, Bacchetta J, Boyer O, et al.
Kidney Int Rep
. 2024 Oct;
9(10):3006-3015.
PMID: 39430166
Introduction: Primary hyperoxaluria type 1 (PH1) is known for its variable clinical course, even within families. However, the extent of this heterogeneity has not been well-studied. We aimed to analyze...
7.
Montez de Sousa I, Bonthuis M, Kramer A, Ordonez F, de la Cerda Ojeda F, Rydell H, et al.
Nephrol Dial Transplant
. 2024 Aug;
PMID: 39182157
Background And Hypothesis: Young adults starting kidney replacement therapy (KRT) during childhood and reaching their 18th birthday (i.e. adult survivors of childhood KRT) form a challenging population of interest to...
8.
Saland J, Lieske J, Groothoff J, Frishberg Y, Shasha-Lavsky H, Magen D, et al.
Kidney Int Rep
. 2024 Jul;
9(7):2037-2046.
PMID: 39081738
Introduction: Patients with primary hyperoxaluria type 1 (PH1), a genetic disorder associated with hepatic oxalate overproduction, frequently experience recurrent kidney stones and worsening kidney function. Lumasiran is indicated for the...
9.
Reijman M, Tromp T, Hutten B, Hovingh G, Blom D, Catapano A, et al.
Lancet Child Adolesc Health
. 2024 May;
8(7):491-499.
PMID: 38759658
Background: Homozygous familial hypercholesterolaemia (HoFH) is a rare genetic disease characterised by extremely high plasma LDL cholesterol from birth, causing atherosclerotic cardiovascular disease at a young age. Lipoprotein apheresis in...
10.
Reijman M, Kusters D, Groothoff J, Arbeiter K, Dann E, de Boer L, et al.
Atherosclerosis
. 2024 Apr;
392:117525.
PMID: 38598969
Homozygous familial hypercholesterolaemia is a life-threatening genetic condition, which causes extremely elevated LDL-C levels and atherosclerotic cardiovascular disease very early in life. It is vital to start effective lipid-lowering treatment...