Brockmann, Knut

[["dc.bibliographiccitation.firstpage","268"],["dc.bibliographiccitation.issue","5"],["dc.bibliographiccitation.journal","Neuropediatrics"],["dc.bibliographiccitation.lastpage","271"],["dc.bibliographiccitation.volume","44"],["dc.contributor.author","Shoukier, Moneef"],["dc.contributor.author","Fuchs, Sigrid"],["dc.contributor.author","Schwaibold, Eva"],["dc.contributor.author","Lingen, Michael"],["dc.contributor.author","Gärtner, Jutta"],["dc.contributor.author","Brockmann, Knut"],["dc.contributor.author","Zirn, Birgit"],["dc.date.accessioned","2017-09-07T11:47:08Z"],["dc.date.available","2017-09-07T11:47:08Z"],["dc.date.issued","2013"],["dc.description.abstract","Terminal deletions of chromosome 3p26.3 confined to the CHL1 gene have previously been described in children with intellectual disability and epilepsy. Here, we report for the first time, a 3p26.3 duplication including only the CHL1 gene in an intellectually disabled girl with epilepsy. The penetrance of both deletions and duplications in 3p26.3 is reduced because all chromosomal imbalances were inherited from healthy parents. Further studies are needed to specify the pathogenic mechanism of 3p26.3 imbalances and to estimate recurrence risks in genetic counseling. However, the description of both deletions and duplications of chromosome 3p26.3 in nonsyndromic intellectual disability suggests that CHL1 is a dosage-sensitive gene with an important role for normal cognitive development."],["dc.identifier.doi","10.1055/s-0033-1333874"],["dc.identifier.gro","3142278"],["dc.identifier.isi","000324755000006"],["dc.identifier.pmid","23436495"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/6509"],["dc.notes.intern","WoS Import 2017-03-10"],["dc.notes.status","final"],["dc.notes.submitter","PUB_WoS_Import"],["dc.publisher","Georg Thieme Verlag Kg"],["dc.relation.issn","0174-304X"],["dc.title","Microduplication of 3p26.3 in Nonsyndromic Intellectual Disability Indicates an Important Role of CHL1 for Normal Cognitive Function"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.subtype","original"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","143"],["dc.bibliographiccitation.journal","Brain"],["dc.bibliographiccitation.lastpage","156"],["dc.bibliographiccitation.volume","134"],["dc.contributor.author","Namavar, Yasmin"],["dc.contributor.author","Barth, Peter G."],["dc.contributor.author","Kasher, Paul R."],["dc.contributor.author","van Ruissen, Fred"],["dc.contributor.author","Brockmann, Knut"],["dc.contributor.author","Bernert, Guenther"],["dc.contributor.author","Writzl, Karin"],["dc.contributor.author","Ventura, Karen"],["dc.contributor.author","Cheng, Edith Y."],["dc.contributor.author","Ferriero, Donna M."],["dc.contributor.author","Basel-Vanagaite, Lina"],["dc.contributor.author","Eggens, Veerle R. C."],["dc.contributor.author","Kraegeloh-Mann, Ingeborg"],["dc.contributor.author","De Meirleir, Linda"],["dc.contributor.author","King, Mary"],["dc.contributor.author","Graham, John M., Jr."],["dc.contributor.author","von Moers, Arpad"],["dc.contributor.author","Knoers, Nine"],["dc.contributor.author","Sztriha, Laszlo K."],["dc.contributor.author","Korinthenberg, Rudolf"],["dc.contributor.author","Dobyns, William B."],["dc.contributor.author","Baas, Frank"],["dc.contributor.author","Poll-The, Bwee Tien"],["dc.date.accessioned","2018-11-07T09:00:54Z"],["dc.date.available","2018-11-07T09:00:54Z"],["dc.date.issued","2011"],["dc.description.abstract","Pontocerebellar hypoplasia is a group of autosomal recessive neurodegenerative disorders with prenatal onset. The common characteristics are cerebellar hypoplasia with variable atrophy of the cerebellum and the ventral pons. Supratentorial involvement is reflected by variable neocortical atrophy, ventriculomegaly and microcephaly. Mutations in the transfer RNA splicing endonuclease subunit genes (TSEN54, TSEN2, TSEN34) were found to be associated with pontocerebellar hypoplasia types 2 and 4. Mutations in the mitochondrial transfer RNA arginyl synthetase gene (RARS2) were associated with pontocerebellar hypoplasia type 6. We studied a cohort of 169 patients from 141 families for mutations in these genes, of whom 106 patients tested positive for mutations in one of the TSEN genes or the RARS2 gene. In order to delineate the neuroradiological and clinical phenotype of patients with mutations in these genes, we compared this group with 63 patients suspected of pontocerebellar hypoplasia who were negative on mutation analysis. We found a strong correlation (P < 0.0005) between TSEN54 mutations and a dragonfly-like cerebellar pattern on magnetic resonance imaging, in which the cerebellar hemispheres are flat and severely reduced in size and the vermis is relatively spared. Mutations in TSEN54 are clinically associated with dyskinesia and/or dystonia and variable degrees of spasticity, in some cases with pure generalized spasticity. Nonsense or splice site mutations in TSEN54 are associated with a more severe phenotype of more perinatal symptoms, ventilator dependency and early death. In addition, we present ten new mutations in TSEN54, TSEN2 and RARS2. Furthermore, we show that pontocerebellar hypoplasia type 1 together with elevated cerebrospinal fluid lactate may be caused by RARS2 mutations."],["dc.identifier.doi","10.1093/brain/awq287"],["dc.identifier.isi","000285625000014"],["dc.identifier.pmid","20952379"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/24277"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Oxford Univ Press"],["dc.relation.issn","0006-8950"],["dc.title","Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","772"],["dc.bibliographiccitation.issue","11"],["dc.bibliographiccitation.journal","Journal of Medical Genetics"],["dc.bibliographiccitation.lastpage","775"],["dc.bibliographiccitation.volume","50"],["dc.contributor.author","Banne, Ehud"],["dc.contributor.author","Atawneh, Osama"],["dc.contributor.author","Henneke, Marco"],["dc.contributor.author","Brockmann, Knut"],["dc.contributor.author","Gärtner, Jutta"],["dc.contributor.author","Elpeleg, Orly"],["dc.contributor.author","Edvardson, Simon"],["dc.date.accessioned","2017-09-07T11:47:04Z"],["dc.date.available","2017-09-07T11:47:04Z"],["dc.date.issued","2013"],["dc.description.abstract","West syndrome (WS) is an epileptic encephalopathy of childhood, defined by the presence of clustered spasms usually occurring before the age of 1year, hypsarrhythmia on EEG that is notoriously difficult to define, and developmental arrest or regression. The incidence of WS is 1:3200 live births with an aetiology-dependent prognosis. Up to 80% of children with symptomatic WS suffer from mental retardation, and approximately 50% develop Lennox-Gastaut syndrome. Using homozygosity mapping followed by exome sequencing, we identified a ADP-ribosylation factor (ARF) guanine nucleotide-exchange factor two (brefeldin A-inhibited) (ARFGEF2) mutation in five related infants with WS. ARFGEF2 is involved in the activation of ARFs by accelerating replacement of bound guanosine diphosphate (GDP) with Guanosine triphosphate (GTP), and is involved in Golgi transport. A mutation in ARFGEF2 has been previously described only once, causing microcephaly and periventricular heterotopia. Here, we describe a novel ARFGEF2 mutation in five related patients presenting with WS, microcephaly, periventricular heterotopia and thin corpus callosum."],["dc.identifier.doi","10.1136/jmedgenet-2013-101752"],["dc.identifier.gro","3142256"],["dc.identifier.isi","000328141400009"],["dc.identifier.pmid","23812912"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/6265"],["dc.notes.intern","WoS Import 2017-03-10 / Funder: German Research Foundation [Ga354/9-1]"],["dc.notes.status","final"],["dc.notes.submitter","PUB_WoS_Import"],["dc.publisher","Bmj Publishing Group"],["dc.relation.eissn","1468-6244"],["dc.relation.issn","0022-2593"],["dc.title","West syndrome, microcephaly, grey matter heterotopia and hypoplasia of corpus callosum due to a novel ARFGEF2 mutation"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.subtype","original"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","10"],["dc.bibliographiccitation.issue","1"],["dc.bibliographiccitation.journal","European Journal of Paediatric Neurology"],["dc.bibliographiccitation.lastpage","16"],["dc.bibliographiccitation.volume","11"],["dc.contributor.author","Huppke, Peter"],["dc.contributor.author","Koehler, Karola"],["dc.contributor.author","Brockmann, Knut"],["dc.contributor.author","Stettner, Georg M."],["dc.contributor.author","Gärtner, Jutta"],["dc.date.accessioned","2017-09-07T11:49:52Z"],["dc.date.available","2017-09-07T11:49:52Z"],["dc.date.issued","2007"],["dc.description.abstract","Introduction: Epilepsy is very frequent in Rett syndrome (RTT) patients and often difficult to treat. Because most cases of RTT are caused by mutations in the MECP2 gene it is reasonable to assume that convulsions are based on common pathogenetic mechanisms and thus should have a similar response to antiepileptic drugs. Purpose: To find the optimal treatment for epilepsy in RTT. Methods: We performed a retrospective study on 110 female patients with confirmed MECP2 mutations. Results: The median age was 10 years, 58% had a history of epilepsy and 55% received antiepileptic drugs (AEDs). Only sulthiame, carbamazepine and valproate were administered in an adequate frequency to allow statistical analysis. The best anticonvulsive results were seen in the RTT group that was treated with carbamazepine. Sulthiame was slightly less effective while valproate was significantly less effective. The rate of side effects was equivalent in all groups. In conclusion, carbamazepine should be recommended as first choice AED in RTT. If carbamazepine is not effective or not well tolerated sulthiame ought to be taken as second choice AED. (c) 2006 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved."],["dc.identifier.doi","10.1016/j.ejpn.2006.09.003"],["dc.identifier.gro","3143557"],["dc.identifier.isi","000244178200002"],["dc.identifier.pmid","17178248"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/1084"],["dc.notes.intern","WoS Import 2017-03-10"],["dc.notes.status","final"],["dc.notes.submitter","PUB_WoS_Import"],["dc.publisher","Elsevier Sci Ltd"],["dc.relation.issn","1090-3798"],["dc.title","Treatment of epilepsy in Rett syndrome"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.subtype","original"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","152"],["dc.bibliographiccitation.issue","1-2"],["dc.bibliographiccitation.journal","Journal of the Neurological Sciences"],["dc.bibliographiccitation.lastpage","154"],["dc.bibliographiccitation.volume","331"],["dc.contributor.author","Schmidt, Holger"],["dc.contributor.author","Kretzschmar, Benedikt"],["dc.contributor.author","Lingor, Paul"],["dc.contributor.author","Pauli, Silke"],["dc.contributor.author","Schramm, Peter"],["dc.contributor.author","Otto, Markus"],["dc.contributor.author","Ohlenbusch, Andreas"],["dc.contributor.author","Brockmann, Knut"],["dc.date.accessioned","2018-11-07T09:21:15Z"],["dc.date.available","2018-11-07T09:21:15Z"],["dc.date.issued","2013"],["dc.description.abstract","Adult-onset Alexander disease (AOAD) is a rare leukoencephalopathy affecting predominantly the brainstem and cervical cord with insidious onset of clinical features. Acute onset is very rare and has yet been described only twice, to our knowledge. We report a 32-year-old hitherto healthy male who, after excessive consumption of alcohol, presented with stroke-like onset of symptoms including rigidospasticity, loss of consciousness, and bulbar dysfunction. MRI features comprised bilateral T2-hyperintensities of frontal white matter and basal ganglia as well as atrophy of medulla oblongata with a peculiar \"tadpole\" appearance, a pattern characteristic of AOAD. Mutation analysis of the GFAP gene revealed a heterozygous de novo 9-bp microduplication in exon 1. Adult Alexander disease may present with stroke-like features. MRI patterns of chronic neurodegenerative conditions may be recognizable even in acute neurological emergencies. (C) 2013 Elsevier B.V. All rights reserved."],["dc.identifier.doi","10.1016/j.jns.2013.05.006"],["dc.identifier.isi","000322415000030"],["dc.identifier.pmid","23706596"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/29072"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Elsevier Science Bv"],["dc.relation.issn","0022-510X"],["dc.title","Acute onset of adult Alexander disease"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","580"],["dc.bibliographiccitation.issue","7"],["dc.bibliographiccitation.journal","Developmental Medicine & Child Neurology"],["dc.bibliographiccitation.lastpage","581"],["dc.bibliographiccitation.volume","53"],["dc.contributor.author","Brockmann, Knut"],["dc.date.accessioned","2018-11-07T08:54:53Z"],["dc.date.available","2018-11-07T08:54:53Z"],["dc.date.issued","2011"],["dc.identifier.doi","10.1111/j.1469-8749.2011.03946.x"],["dc.identifier.isi","000291398700004"],["dc.identifier.pmid","21585366"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/22775"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Wiley-blackwell"],["dc.relation.issn","0012-1622"],["dc.title","Towards a more palatable treatment for Glut1 deficiency syndrome"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dc.type.subtype","letter_note"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","39"],["dc.bibliographiccitation.issue","1"],["dc.bibliographiccitation.journal","Journal of Gastroenterology"],["dc.bibliographiccitation.lastpage","48"],["dc.bibliographiccitation.volume","42"],["dc.contributor.author","Gerstner, Thorsten"],["dc.contributor.author","Buesing, Deike"],["dc.contributor.author","Bell, Nellie"],["dc.contributor.author","Longin, Elke"],["dc.contributor.author","Kasper, Johannes-Martin"],["dc.contributor.author","Klostermann, Wolfgang"],["dc.contributor.author","Hebing, Burkhard"],["dc.contributor.author","Hanefeld, Folker"],["dc.contributor.author","Eckel, Ulrich"],["dc.contributor.author","Hoffmann, Reiner"],["dc.contributor.author","Bettendorf, Ulrich"],["dc.contributor.author","Weidner, Birgit"],["dc.contributor.author","Wiemer-Kruel, Adelheid"],["dc.contributor.author","Brockmann, Knut"],["dc.contributor.author","Neumann, Fritz-Wilhelm"],["dc.contributor.author","Sandrieser, Thorsten"],["dc.contributor.author","Wolff, Markus"],["dc.contributor.author","Koenig, Stephan"],["dc.date.accessioned","2018-11-07T11:06:51Z"],["dc.date.available","2018-11-07T11:06:51Z"],["dc.date.issued","2007"],["dc.description.abstract","Background Acute pancreatitis is rarely seen in children, and, in contrast to cases in adults, it is often drug induced. One possible medication is the antiepileptic drug valproic acid (VPA), which is commonly prescribed for generalized and focal epilepsy, migraine, neuropathic pain, and bipolar disorder. The common side effects associated with VPA are typically benign, but less common but more serious adverse effects may occur. These include hepatotoxicity, hyperammonemic encephalopathy, coagulation disorders, and pancreatitis. Since 1979, a few cases of pancreatitis induced by VPA have been published in the medical literature. Methods We mailed a questionnaire to all members of the \"German Section of the International League against Epilepsy,\" asking about VPA-induced side effects. We also reviewed the medical literature for VPA-induced pancreatitis. Results Fifty-three publications (90 patients) published from 1979 to 2005 were found. Our survey in Germany, however, yielded 16 cases of pancreatitis from 1994 to 2003 whose original files we could study in detail. None of these patients had been published previously. Conclusion The difference between 90 patients reported worldwide from 1979 to 2005 and the 16 new documented cases from only Germany over 10 years corroborates that the occurrence of this severe side effect is under reported."],["dc.identifier.doi","10.1007/s00535-006-1961-4"],["dc.identifier.isi","000244483900005"],["dc.identifier.pmid","17322992"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/52417"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Springer"],["dc.publisher.place","Tokyo"],["dc.relation.issn","0944-1174"],["dc.title","Valproic acid-induced pancreatitis: 16 new cases and a review of the literature"],["dc.type","review"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","739"],["dc.bibliographiccitation.issue","9-10"],["dc.bibliographiccitation.journal","Neuromuscular Disorders"],["dc.bibliographiccitation.lastpage","740"],["dc.bibliographiccitation.volume","23"],["dc.contributor.author","Zou, Y."],["dc.contributor.author","Zwolanek, D."],["dc.contributor.author","Hu, Y."],["dc.contributor.author","Schreiber, Gudrun"],["dc.contributor.author","Brockmann, Knut"],["dc.contributor.author","Izu, Yayoi"],["dc.contributor.author","Tian, Z."],["dc.contributor.author","Devoto, Marcella"],["dc.contributor.author","Gandhy, S."],["dc.contributor.author","Meier, M."],["dc.contributor.author","Stetefeld, J."],["dc.contributor.author","Hicks, Pamela J."],["dc.contributor.author","Straub, Volker"],["dc.contributor.author","Voermans, N."],["dc.contributor.author","Birk, D. E."],["dc.contributor.author","Barton, E. R."],["dc.contributor.author","Koch, M."],["dc.contributor.author","Bönnemann, C. G."],["dc.date.accessioned","2018-11-07T09:19:35Z"],["dc.date.available","2018-11-07T09:19:35Z"],["dc.date.issued","2013"],["dc.identifier.doi","10.1016/j.nmd.2013.06.380"],["dc.identifier.isi","000324972500007"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/28674"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Pergamon-elsevier Science Ltd"],["dc.publisher.place","Oxford"],["dc.relation.eventlocation","CA"],["dc.title","Collagen type XII: A new congenital matrix and muscle disease"],["dc.type","conference_abstract"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","893"],["dc.bibliographiccitation.issue","12"],["dc.bibliographiccitation.journal","Neuroradiology"],["dc.bibliographiccitation.lastpage","898"],["dc.bibliographiccitation.volume","48"],["dc.contributor.author","Dreha-Kulaczewski, Steffi F."],["dc.contributor.author","Dechent, Peter"],["dc.contributor.author","Helms, Gunther"],["dc.contributor.author","Frahm, Jens"],["dc.contributor.author","Gärtner, Jutta"],["dc.contributor.author","Brockmann, Knut"],["dc.date.accessioned","2017-09-07T11:49:54Z"],["dc.date.available","2017-09-07T11:49:54Z"],["dc.date.issued","2006"],["dc.description.abstract","Introduction Hereditary spastic paraplegia with thin corpus callosum (HSP-TCC) is a complicated form of autosomal-recessive hereditary spastic paraplegia. Characteristic clinical features comprise progressive spastic gait, cognitive impairment, and ataxia. Diagnostic MRI findings include thinning of the corpus callosum and non-progressive white matter (WM) alterations. Methods To study the extent of axonal involvement, we performed localized proton magnetic resonance spectroscopy (MRS) of the cerebral WM and cortical grey matter (GM) in a patient with HSP-TCC at 20 and 25 years of age. The second investigation included diffusion tensor imaging (DTI). Results While MRS of the GM was normal, affected WM was characterized by major metabolic alterations such as reduced concentrations of N-acetylaspartate and N-acetylaspartyl-glutamate, creatine and phosphocreatine, and choline-containing compounds as well as elevated levels of myo-inositol. These abnormalities showed progression over a period of 5 years. DTI revealed increased mean diffusivity as well as reduced fractional anisotropy in periventricular WM. The metabolic and structural findings are consistent with progressive neuroaxonal loss in the WM accompanied by astrocytic proliferation-histopathological changes known to occur in HSP-TCC. Conclusion Our results are in agreement with the hypothesis that the primary pathological process in HSP-TCC affects the axon, possibly due to impaired axonal trafficking."],["dc.identifier.doi","10.1007/s00234-006-0148-2"],["dc.identifier.gro","3143582"],["dc.identifier.isi","000242365500005"],["dc.identifier.pmid","17013586"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/1111"],["dc.notes.intern","WoS Import 2017-03-10"],["dc.notes.status","final"],["dc.notes.submitter","PUB_WoS_Import"],["dc.publisher","Springer"],["dc.relation.issn","0028-3940"],["dc.title","Cerebral metabolic and structural alterations in hereditary spastic paraplegia with thin corpus callosum assessed by MRS and DTI"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.subtype","original"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","869"],["dc.bibliographiccitation.issue","6"],["dc.bibliographiccitation.journal","Journal of Inherited Metabolic Disease"],["dc.bibliographiccitation.lastpage","876"],["dc.bibliographiccitation.volume","39"],["dc.contributor.author","Rosewich, Hendrik"],["dc.contributor.author","Dechent, Peter"],["dc.contributor.author","Krause, Cindy"],["dc.contributor.author","Ohlenbusch, Andreas"],["dc.contributor.author","Brockmann, Knut"],["dc.contributor.author","Gärtner, Jutta"],["dc.date.accessioned","2017-09-07T11:44:32Z"],["dc.date.available","2017-09-07T11:44:32Z"],["dc.date.issued","2016"],["dc.description.abstract","Defects in the biogenesis of peroxisomes cause a clinically and genetically heterogeneous group of neurometabolic disorders, the Zellweger syndrome spectrum (ZSS). Diagnosis predominantly is based on characteristic clinical symptoms, a typical biochemical profile, as well as on identification of the molecular defect in any of the 12 known human PEX genes. The diagnostic workup can be hindered if the typical clinical symptoms are missing and predicting the clinical course of a given patient is almost unfeasible. As a safe and noninvasive method to analyze specific chemical compounds in localized brain regions, in vivo proton magnetic resonance spectroscopy (MRS) can provide an indication in this diagnostic process and may help predict the clinical course. However, to date, there are very few reports on this topic. In this study, we performed localized in vivo proton MRS without confounding contributions from T1- and T2-relaxation effects at 2 Tesla in a comparably large group of seven ZSS patients. Patients' absolute metabolite concentrations in cortical gray matter, white matter, and basal ganglia were assessed and compared with age-matched control values. Our results confirm and extend knowledge about in vivo MRS findings in ZSS patients. Besides affirmation of nonspecific reduction of N-acetylaspartate + N-acetylaspartylglutamate (tNAA) in combination with lipid accumulation as a diagnostic hint for this disease group, the amount of tNAA loss seems to reflect disease burden and may prove to be of prognostic value regarding the clinical course of an already diagnosed patient."],["dc.identifier.doi","10.1007/s10545-016-9965-6"],["dc.identifier.gro","3141599"],["dc.identifier.isi","000386383500011"],["dc.identifier.pmid","27488561"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/10"],["dc.notes.intern","WoS Import 2017-03-10"],["dc.notes.status","final"],["dc.notes.submitter","PUB_WoS_Import"],["dc.publisher","Springer"],["dc.relation.eissn","1573-2665"],["dc.relation.issn","0141-8955"],["dc.title","Diagnostic and prognostic value of in vivo proton MR spectroscopy for Zellweger syndrome spectrum patients"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.subtype","original"],["dspace.entity.type","Publication"]]