Stephan Kemp
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Explore the profile of Stephan Kemp including associated specialties, affiliations and a list of published articles.
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98
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Recent Articles
11.
Alexander S, Fabbro D, Kelly E, Mathie A, Peters J, Veale E, et al.
Br J Pharmacol
. 2023 Dec;
180 Suppl 2:S374-S469.
PMID: 38123156
The Concise Guide to PHARMACOLOGY 2023/24 is the sixth in this series of biennial publications. The Concise Guide provides concise overviews, mostly in tabular format, of the key properties of...
12.
Buda A, Forss-Petter S, Hua R, Jaspers Y, Lassnig M, Waidhofer-Sollner P, et al.
Biomolecules
. 2023 Sep;
13(9).
PMID: 37759733
X-linked adrenoleukodystrophy (X-ALD), the most common peroxisomal disorder, is caused by mutations in the peroxisomal transporter ABCD1, resulting in the accumulation of very long-chain fatty acids (VLCFA). Strongly affected cell...
13.
Yska H, Henneman L, Barendsen R, Engelen M, Kemp S
Int J Neonatal Screen
. 2023 Sep;
9(3).
PMID: 37754777
Newborn screening (NBS) for X-linked adrenoleukodystrophy (ALD) can identify affected individuals before the onset of life-threatening manifestations. Some countries have decided to only screen boys (sex-specific screening). This study investigates...
14.
Kemp S, Orsini J, Ebberink M, Engelen M, Lund T
Mol Genet Metab
. 2023 Aug;
140(1-2):107678.
PMID: 37574344
The advancements in population screening, including newborn screening, enables the identification of disease-causing variants and timely initiation of treatment. However, screening may also identify mild variants, non-disease variants, and variants...
15.
Zierfuss B, Buda A, Villoria-Gonzalez A, Logist M, Fabjan J, Parzer P, et al.
J Neuroinflammation
. 2022 Dec;
19(1):305.
PMID: 36528616
Saturated very long-chain fatty acids (VLCFA, ≥ C22), enriched in brain myelin and innate immune cells, accumulate in X-linked adrenoleukodystrophy (X-ALD) due to inherited dysfunction of the peroxisomal VLCFA transporter...
16.
Albersen M, van der Beek S, Dijkstra I, Alders M, Barendsen R, Bliek J, et al.
J Inherit Metab Dis
. 2022 Oct;
46(1):116-128.
PMID: 36256460
Males with X-linked adrenoleukodystrophy (ALD) are at high risk for developing adrenal insufficiency and/or progressive leukodystrophy (cerebral ALD) at an early age. Pathogenic variants in ABCD1 result in elevated levels...
17.
Engelen M, van Ballegoij W, Mallack E, Van Haren K, Kohler W, Salsano E, et al.
Neurology
. 2022 Sep;
99(21):940-951.
PMID: 36175155
Pathogenic variants in the gene cause adrenoleukodystrophy (ALD), a progressive metabolic disorder characterized by 3 core clinical syndromes: a slowly progressive myeloneuropathy, a rapidly progressive inflammatory leukodystrophy (cerebral ALD), and...
18.
Gupta A, Raymond G, Pierpont E, Kemp S, McIvor R, Rayannavar A, et al.
Expert Opin Biol Ther
. 2022 Sep;
22(9):1151-1162.
PMID: 36107226
Introduction: Adrenoleukodystrophy (ALD) is an X-linked peroxisomal disorder with an incidence of 1 in 14-17,000 male births, caused by pathogenic variants within the gene. By adulthood, approximately 40% of the...
19.
Weinhofer I, Buda A, Kunze M, Palfi Z, Traunfellner M, Hesse S, et al.
Commun Biol
. 2022 Sep;
5(1):944.
PMID: 36085307
Very long-chain fatty acids (VLCFA) are critical for human cytomegalovirus replication and accumulate upon infection. Here, we used Epstein-Barr virus (EBV) infection of human B cells to elucidate how herpesviruses...
20.
van der Pal S, Wins S, Klapwijk J, van Dijk T, Kater-Kuipers A, van der Ploeg C, et al.
PLoS One
. 2022 Aug;
17(8):e0272585.
PMID: 35980961
Introduction: The goal of newborn bloodspot screening (NBS) is the early detection of treatable disorders in newborns to offer early intervention. Worldwide, the number of conditions screened for is expanding,...