J Denecke
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Explore the profile of J Denecke including associated specialties, affiliations and a list of published articles.
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31
Citations
1025
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Recent Articles
1.
Alves C, Sherbini O, DArco F, Steel D, Kurian M, Radio F, et al.
AJNR Am J Neuroradiol
. 2022 Jun;
43(7):1048-1053.
PMID: 35772801
Background And Purpose: Pathogenic somatic variants affecting the genes () are extensively linked to the process of oncogenesis, in particular related to central nervous system tumors in children. Recently, germline...
2.
Vieira V, Pain C, Wojcik S, Spatola Rossi T, Denecke J, Osterrieder A, et al.
J Microsc
. 2020 Jul;
280(2):158-173.
PMID: 32700322
The plant Golgi apparatus is responsible for the processing of proteins received from the endoplasmic reticulum (ER) and their distribution to multiple destinations within the cell. Golgi matrix components, such...
3.
Feldmann R, Denecke J, Grenzebach M, Weglage J
J Inherit Metab Dis
. 2005 May;
28(4):445-55.
PMID: 15902547
Even early-treated phenylketonurics may suffer from phenylalanine-related deficits. Elevated phenylalanine concentrations can interfere with the development and function of the CNS. Outcome beyond childhood has not been extensively investigated. This...
4.
Feldmann R, Denecke J, Grenzebach M, Schuierer G, Weglage J
Neurology
. 2003 Dec;
61(12):1725-8.
PMID: 14694037
Background: Cognitive impairment and fine motor deficits are frequent manifestations in patients with neurofibromatosis type 1 (NF1). More than 50% of patients with NF1 show focal areas of high signal...
5.
Haberle J, Denecke J, Schmidt E, Koch H
J Inherit Metab Dis
. 2003 Nov;
26(6):601-5.
PMID: 14605506
Molecular diagnosis of N-acetylglutamate synthase deficiency (NAGSD) has become possible now that the corresponding gene has been identified. We describe the genetic analysis of a patient with NAGSD using low-level...
6.
Marquardt T, Denecke J
Eur J Pediatr
. 2003 May;
162(6):359-79.
PMID: 12756558
Congenital disorders of glycosylation (CDG, formerly named carbohydrate-deficient glycoprotein syndromes) are a rapidly growing family of inherited disorders affecting the assembly or processing of glycans on glycoconjugates. The clinical spectrum...
7.
Weglage J, Wiedermann D, Denecke J, Feldmann R, Koch H, Ullrich K, et al.
J Inherit Metab Dis
. 2003 Jan;
25(6):431-6.
PMID: 12555936
Recent studies indicate that individual blood-brain transport characteristics of phenylalanine may lead to different clinical outcomes in phenylketonuria (PKU) patients in spite of comparable dietary control. To check these preliminary...
8.
Weglage J, Grenzebach M, von Teeffelen-Heithoff A, Marquardt T, Feldmann R, Denecke J, et al.
J Inherit Metab Dis
. 2002 Sep;
25(4):321-2.
PMID: 12227464
In a group of 87 consecutive patients with hyperphenylalaninaemia born since 1990, only 3 patients showed a (temporary) decrease of serum phenylalanine levels after tetrahydrobiopterin (BH4) loading in usual doses...
9.
Kranz C, Denecke J, Lehrman M, Ray S, Kienz P, Kreissel G, et al.
J Clin Invest
. 2001 Dec;
108(11):1613-9.
PMID: 11733556
We describe a new congenital disorder of glycosylation, CDG-If. The patient has severe psychomotor retardation, seizures, failure to thrive, dry skin and scaling with erythroderma, and impaired vision. CDG-If is...
10.
Weglage J, Wiedermann D, Denecke J, Feldmann R, Koch H, Ullrich K, et al.
Ann Neurol
. 2001 Oct;
50(4):463-7.
PMID: 11601498
Different clinical outcomes in spite of comparable dietary controls are well known in patients with phenylketonuria. Currently, reasons for this phenomenon are unknown. Kinetic investigations in 15 patients with classic...