Julia B Hennermann
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Explore the profile of Julia B Hennermann including associated specialties, affiliations and a list of published articles.
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85
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1231
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Recent Articles
11.
Pfrimmer C, Smitka M, Muschol N, Husain R, Huemer M, Hennermann J, et al.
J Neuromuscul Dis
. 2023 Dec;
11(1):167-177.
PMID: 38043017
Background: Enzyme replacement therapy (ERT) with recombinant human alglucosidase alfa (rhGAA) was approved in Europe in 2006. Nevertheless, data on the long-term outcome of infantile onset Pompe disease (IOPD) patients...
12.
Wasserstein M, Lachmann R, Hollak C, Barbato A, Gallagher R, Giugliani R, et al.
Orphanet J Rare Dis
. 2023 Dec;
18(1):378.
PMID: 38042851
Background: Olipudase alfa is a recombinant human acid sphingomyelinase enzyme replacement therapy for non-central-nervous-system manifestations of acid sphingomyelinase deficiency (ASMD). The ASCEND randomized placebo-controlled trial in adults with ASMD demonstrated...
13.
Winter Y, Hilz M, Beuschlein F, Tsukimura T, Seifritz E, Lenders M, et al.
Mol Genet Metab
. 2023 Sep;
140(3):107692.
PMID: 37703724
Background: Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by α-galactosidase A (α-Gal A) deficiency. The progressive accumulation of globotriaosylceramide results in life-threatening complications, including renal, cardiac,...
14.
Maier E, Mutze U, Janzen N, Steuerwald U, Nennstiel U, Odenwald B, et al.
J Inherit Metab Dis
. 2023 Aug;
46(6):1043-1062.
PMID: 37603033
Analytical and therapeutic innovations led to a continuous but variable extension of newborn screening (NBS) programmes worldwide. Every extension requires a careful evaluation of feasibility, diagnostic (process) quality and possible...
15.
Mutze U, Henze L, Schroter J, Gleich F, Lindner M, Grunert S, et al.
J Inherit Metab Dis
. 2023 Jul;
46(6):1063-1077.
PMID: 37429829
Newborn screening (NBS) allows early identification of individuals with rare disease, such as isovaleric aciduria (IVA). Reliable early prediction of disease severity of positively screened individuals with IVA is needed...
16.
Guffon N, Konstantopoulou V, Hennermann J, Muschol N, Bruno I, Tummolo A, et al.
J Inherit Metab Dis
. 2023 Feb;
46(4):705-719.
PMID: 36849760
Alpha-mannosidosis (AM) is a rare, autosomal recessive, lysosomal storage disorder caused by alpha-mannosidase deficiency that leads to the accumulation of mannose-rich oligosaccharides. AM symptoms and severity vary among individuals; consequently,...
17.
Halfmann M, Altmann S, Schoepf U, Reichardt C, Hennermann J, Kreitner K, et al.
Eur Radiol
. 2022 Nov;
33(3):2039-2051.
PMID: 36322192
Objectives: Cardiac involvement in Anderson-Fabry disease (AFD) results in myocardial lipid depositions. An early diagnosis can maximize therapeutic benefit. Thus, this study aims to investigate the potential of cardiac MRI...
18.
Cacicedo M, Weinl-Tenbruck C, Frank D, Limeres M, Wirsching S, Hilbert K, et al.
Front Bioeng Biotechnol
. 2022 Oct;
10:993298.
PMID: 36277393
Phenylketonuria (PKU) is an inborn error of metabolism caused by a deficiency in functional phenylalanine hydroxylase (PAH), resulting in accumulation of phenylalanine (Phe) in patients' blood and organs. Affected patients...
19.
Schiffmann R, Cox T, Dedieu J, Gaemers S, Hennermann J, Ida H, et al.
Brain
. 2022 Oct;
146(2):461-474.
PMID: 36256599
Gaucher disease type 3 is a chronic neuronopathic disorder with wide-ranging effects, including hepatosplenomegaly, anaemia, thrombocytopenia, skeletal disease and diverse neurological manifestations. Biallelic mutations in GBA1 reduce lysosomal acid β-glucosidase...
20.
Mutze U, Garbade S, Gleich F, Lindner M, Freisinger P, Hennermann J, et al.
J Inherit Metab Dis
. 2022 Sep;
46(1):15-27.
PMID: 36134599
Newborn screening (NBS) for inherited metabolic diseases (IMDs) substantially shortens a patient's journey. It enables the early start of metabolic treatment which might prevent potentially lethal neonatal disease manifestations, while...