Mirian Janssen
Overview
Explore the profile of Mirian Janssen including associated specialties, affiliations and a list of published articles.
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Articles
9
Citations
76
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0
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Recent Articles
1.
Newborn screening for primary carnitine deficiency: who will benefit? - a retrospective cohort study
Crefcoeur L, Ferdinandusse S, van der Crabben S, Dekkers E, Fuchs S, Huidekoper H, et al.
J Med Genet
. 2023 Jul;
60(12):1177-1185.
PMID: 37487700
Background: Newborn screening (NBS) programmes identify a wide range of disease phenotypes, which raises the question whether early identification and treatment is beneficial for all. This study aims to answer...
2.
Veys K, Berlingerio S, David D, Bondue T, Held K, Reda A, et al.
Cells
. 2022 Apr;
11(7).
PMID: 35406807
Nephropathic cystinosis is an inherited lysosomal storage disorder caused by pathogenic variants in the cystinosin () gene and is characterized by the excessive shedding of proximal tubular epithelial cells (PTECs)...
3.
Abu Bakar N, Ashikov A, Brum J, Smeets R, Kersten M, Huijben K, et al.
J Inherit Metab Dis
. 2022 Mar;
45(4):769-781.
PMID: 35279850
Congenital disorders of glycosylation type 1 (CDG-I) comprise a group of 27 genetic defects with heterogeneous multisystem phenotype, mostly presenting with nonspecific neurological symptoms. The biochemical hallmark of CDG-I is...
4.
de Boer E, Ockeloen C, Matalonga L, Horvath R, Rodenburg R, Coenen M, et al.
Eur J Hum Genet
. 2021 Jul;
29(9):1470-1471.
PMID: 34267341
No abstract available.
5.
Emma F, Vant Hoff W, Hohenfellner K, Topaloglu R, Greco M, Ariceta G, et al.
Kidney Int
. 2021 Jul;
100(5):1112-1123.
PMID: 34237326
Nephropathic cystinosis is a rare disease secondary to recessive mutations of the CTNS gene encoding the lysosomal cystine transporter cystinosin, causing accumulation of cystine in multiple organs. Over the years,...
6.
de Boer E, Ockeloen C, Matalonga L, Horvath R, Rodenburg R, Coenen M, et al.
Eur J Hum Genet
. 2021 Jun;
29(9):1359-1368.
PMID: 34075211
The genetic etiology of intellectual disability remains elusive in almost half of all affected individuals. Within the Solve-RD consortium, systematic re-analysis of whole exome sequencing (WES) data from unresolved cases...
7.
Smeitink J, Koene S, Beyrath J, Saris C, Turnbull D, Janssen M
JIMD Rep
. 2019 Jun;
46(1):52-62.
PMID: 31240155
Migraine, characterized by recurrent attacks of predominantly unilateral throbbing headache, affects approximately 15% of the adult population and is an important cause of disability worldwide. Knowledge required for the development...
8.
Verhaak C, de Laat P, Koene S, Tibosch M, Rodenburg R, de Groot I, et al.
Orphanet J Rare Dis
. 2016 Mar;
11:25.
PMID: 26988355
Background: Mitochondrial disorders belong to the most prevalent inherited metabolic diseases with the m.3243A > G mutation reflecting being one of the most common mutations in mitochondrial DNA. Previous studies...
9.
Schadewaldt P, Hammen H, Kamalanathan L, Wendel U, Schwarz M, Bosch A, et al.
Eur J Pediatr
. 2008 Sep;
168(6):721-9.
PMID: 18813948
Pregnancy, delivery, and postpartal metabolic control was monitored biochemically in five patients (22-38 years of age) with clinically, enzymatically, and genotypically established classical galactosaemia and good dietary compliance. Three of...