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
1.
Kampmann C, Lampe C, Wiethoff C, Arash-Kaps L, Mengel E, Reinke J, et al.
J Inherit Metab Dis
. 2024 Oct;
48(1):e12808.
PMID: 39440439
Mucopolysaccharidosis II (MPS II, Hunter syndrome) is a rare, X-linked lysosomal storage disease caused by reduced activity of iduronate-2-sulfatase (I2S), with subsequent cellular accumulation of the glycosaminoglycans (GAGs), heparan sulfate,...
2.
Segura Schmitz L, Hennermann J, Lollert A
Dtsch Med Wochenschr
. 2024 Oct;
149(21):1263-1269.
PMID: 39384207
Lysosomal storage disorders (LSD) are a heterogenous group of inborn errors of metabolism due to lysosomal malfunction. LSDs affect 1 in 5000 live births, albeit every LSD itself has a...
3.
Truninger M, Werner H, Landolt M, Hahn A, Hennermann J, Lagler F, et al.
Orphanet J Rare Dis
. 2024 Sep;
19(1):358.
PMID: 39342352
Background: Children and adolescents with Pompe disease (PD) face chronic and progressive myopathy requiring time-intensive enzyme replacement therapy (ERT). Little is known about their perspectives on the disease and its...
4.
Schnabel-Besson E, Garbade S, Gleich F, Grunert S, Kramer J, Thimm E, et al.
J Inherit Metab Dis
. 2024 Aug;
48(1):e12784.
PMID: 39189622
Newborn screening (NBS) is one of the most effective measures of secondary prevention. While the benefit of NBS on the clinical long-term outcomes of children with inherited metabolic diseases (IMD)...
5.
Guffon N, Burton B, Ficicioglu C, Magner M, Gil-Campos M, Lopez-Rodriguez M, et al.
Mol Genet Metab
. 2024 Jul;
142(4):108519.
PMID: 39024860
Introduction: Current literature lacks consensus on initial assessments and routine follow-up care of patients with alpha-mannosidosis (AM). A Delphi panel was conducted to generate and validate recommendations on best practices...
6.
Truninger M, Werner H, Landolt M, Hahn A, Hennermann J, Lagler F, et al.
J Inherit Metab Dis
. 2024 Jul;
47(6):1348-1362.
PMID: 38979754
Genetic disorders pose great challenges for affected individuals and their families, as they must cope with the irreversible nature of the disease and a life-long dependence on medical assistance and...
7.
Mengler K, Garbade S, Gleich F, Thimm E, May P, Lindner M, et al.
Pediatrics
. 2024 Jul;
154(2.
PMID: 38957900
Objective: Maple syrup urine disease (MSUD), a life-threatening metabolic disorder, is included in newborn screening (NBS) programs worldwide. The study aims to evaluate the impact of NBS on the long-term...
8.
Giugliani R, Gonzalez-Meneses A, Scarpa M, Burton B, Wang R, Martins E, et al.
Orphanet J Rare Dis
. 2024 May;
19(1):189.
PMID: 38715031
Background: Mucopolysaccharidosis VII (MPS VII) is an ultra-rare, autosomal recessive, debilitating, progressive lysosomal storage disease caused by reduced activity of β-glucuronidase (GUS) enzyme. Vestronidase alfa (recombinant human GUS) intravenous enzyme...
9.
Reischl-Hajiabadi A, Schnabel E, Gleich F, Mengler K, Lindner M, Burgard P, et al.
J Inherit Metab Dis
. 2024 Apr;
47(4):674-689.
PMID: 38563533
The current German newborn screening (NBS) panel includes 13 inherited metabolic diseases (IMDs). In addition, a NBS pilot study in Southwest Germany identifies individuals with propionic acidemia (PA), methylmalonic acidemia...
10.
Mutze U, Ottenberger A, Gleich F, Maier E, Lindner M, Husain R, et al.
Ann Clin Transl Neurol
. 2024 Jan;
11(4):883-898.
PMID: 38263760
Objective: This study aims to elucidate the long-term benefit of newborn screening (NBS) for individuals with long-chain 3-hydroxy-acyl-CoA dehydrogenase (LCHAD) and mitochondrial trifunctional protein (MTP) deficiency, inherited metabolic diseases included...