Anja L Frederiksen
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Explore the profile of Anja L Frederiksen including associated specialties, affiliations and a list of published articles.
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9
Citations
88
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Recent Articles
1.
Benner A, Alhaidan Y, Lines M, Brusgaard K, De Leon D, Sparkes R, et al.
Am J Med Genet A
. 2021 Jun;
185(10):2959-2975.
PMID: 34117828
Idiopathic ketotic hypoglycemia (IKH) is a diagnosis of exclusion with glycogen storage diseases (GSDs) as a differential diagnosis. GSD IXa presents with ketotic hypoglycemia (KH), hepatomegaly, and growth retardation due...
2.
Frost M, Tencerova M, Andreasen C, Andersen T, Ejersted C, Svaneby D, et al.
Bone
. 2019 Jan;
121:243-254.
PMID: 30659980
Background: NF-κB essential modulator (NEMO), encoded by IKBKG, is necessary for activation of the ubiquitous transcription factor nuclear factor kappa-light-chain-enhancer of activated B cells (NF-κB). Animal studies suggest NEMO is...
3.
Langdahl J, Frederiksen A, Nguyen N, Brusgaard K, Juhl C
Eur J Med Genet
. 2016 Nov;
60(2):105-109.
PMID: 27866050
Boucher Neuhäuser Syndrome (BNS) is a rare clinical syndrome with autosomal recessive inheritance defined by early-onset ataxia, hypogonadism and chorioretinal dystrophy. We present two siblings diagnosed with BNS in late...
4.
Fuchtbauer L, Brusgaard K, Ledaal P, Frost M, Frederiksen A
Clin Case Rep
. 2016 Jan;
3(12):1012-6.
PMID: 26734137
Vitamin D-dependent rickets type 1 VDDR-1 is a recessive inherited disorder with impaired activation of vitamin D, caused by mutations in CYP27B1. We present long-time follow-up of a case with...
5.
Frederiksen A, Larsen M, Brusgaard K, Novack D, Juel Thiis Knudsen P, Schroder H, et al.
J Bone Miner Res
. 2015 Jul;
31(1):163-72.
PMID: 26178921
Heritable disorders that feature high bone mass (HBM) are rare. The etiology is typically a mutation(s) within a gene that regulates the differentiation and function of osteoblasts (OBs) or osteoclasts...
6.
Duno M, Wibrand F, Baggesen K, Rosenberg T, Kjaer N, Frederiksen A
Gene
. 2012 Dec;
515(2):372-5.
PMID: 23266623
The archetypal NARP syndrome is almost exclusively associated with the m.8993T>C/G mutation in the sixth subunit of the mitochondrial ATP synthase, whereas other mutations in the MT-ATP6 gene primarily associate...
7.
Frederiksen A, Duno M, Welinder L
Ophthalmic Genet
. 2012 Sep;
34(1-2):101-4.
PMID: 22998501
Blue cone monochromatism (BCM) is a rare cone dystrophy with recessive X-linked inheritance and therefore diagnosed in males whereas females are clinically unaffected. We present a female with clinically manifested...
8.
Wibrand F, Jeppesen T, Frederiksen A, Olsen D, Duno M, Schwartz M, et al.
Muscle Nerve
. 2009 Nov;
41(5):607-13.
PMID: 19941338
We evaluated the diagnostic value of respiratory chain (RC) enzyme analysis of muscle in adult patients with mitochondrial myopathy (MM). RC enzyme activity was measured in muscle biopsies from 39...
9.
Jeppesen T, Schwartz M, Frederiksen A, Wibrand F, Olsen D, Vissing J
Arch Neurol
. 2006 Dec;
63(12):1701-6.
PMID: 17172609
Background: Mitochondrial disorders are generally not associated with a clear phenotype-genotype relationship, which complicates the understanding of the disease and genetic counseling. Objective: To investigate the relationship between the muscle...