Affiliation: Heinrich Heine University
- Description of the mutations in 15 subjects with variant forms of maple syrup urine diseaseN Flaschker
Department of General Paediatrics, University Children s Hospital, Heinrich Heine University, Dusseldorf, Germany
J Inherit Metab Dis 30:903-9. 2007..In maple syrup urine disease (MSUD), disease-causing mutations can affect the BCKDHA, BCKDHB or DBT genes encoding for the E1 alpha, E1 beta and E2 subunits of the multienzyme branched-chain 2-keto acid dehydrogenase (BCKD) complex...
- Clinical and neurocognitive outcome in symptomatic isovaleric acidemiaSarah C Grünert
Center for Pediatrics and Adolescent Medicine, Albert Ludwigs Universitat Freiburg, Germany
Orphanet J Rare Dis 7:9. 2012..We aimed to investigate the phenotypic presentation and factors determining the neurological and neurocognitive outcomes of patients diagnosed with IVA following clinical manifestation...
- Efficacy and outcome of expanded newborn screening for metabolic diseases--report of 10 years from South-West GermanyMartin Lindner
Centre for Paediatric and Adolescent Medicine, University Heidelberg, Heidelberg, Germany
Orphanet J Rare Dis 6:44. 2011..However, systematic evaluations of newborn screening programmes are rare, most often only describing parts of the whole process from taking blood samples to long-term evaluation of outcome...
- Evaluation of quality of life and description of the sociodemographic state in adolescent and young adult patients with phenylketonuria (PKU)Eva Simon
Department of General Pediatrics, Heinrich Heine University, Duesseldorf, Germany
Health Qual Life Outcomes 6:25. 2008..Aim of the study was to analyse quality of life and social status, which are important parameters for an overall estimation of success of treatment apart from intellectual outcome in adult PKU patients...
- [Rare metabolic diseases]U Wendel
Klinik fur Allgemeine Padiatrie, Heinrich Heine Universitat Dusseldorf, BRD
Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz 50:1556-63. 2007..Networking of national and international metabolic centres seems imperative for clinical research in the field of rare metabolic diseases in order to provide adequate sample sizes and to yield substantial results...
- Variant maple syrup urine disease (MSUD)--the entire spectrumE Simon
Department of General Paediatrics, University Children s Hospital, Heinrich Heine University, Moorenstr 5, D 40225, Dusseldorf, Germany
J Inherit Metab Dis 29:716-24. 2006..About 20% of the patients suffer from non-classic variant forms of MSUD of different clinical severity...
- Acute neuronopathic Gaucher disease complicated by fatal gastrointestinal bleedingB Hoffmann
Department of General Pediatrics, University Children s Hospital, Heinrich Heine University Dusseldorf, Dusseldorf, Germany
Neuropediatrics 37:163-5. 2006..The gastric mucosa showed marked infiltration with Gaucher cells, in particular around the ulcer. Alterations of the gastrointestinal mucosa offer a new explanation for gastrointestinal bleedings in this disease...
- Maple syrup urine disease: favourable effect of early diagnosis by newborn screening on the neonatal course of the diseaseE Simon
Department of General Paediatrics, University Children s Hospital, Heinrich Heine University Dusseldorf, Dusseldorf, Germany
J Inherit Metab Dis 29:532-7. 2006..Early diagnosis and intervention during the presymptomatic or early symptomatic period should improve the outcome of the patients, which would make the case for screening for MSUD...
- Social outcome in adults with maple syrup urine disease (MSUD)E Simon
Department of General Pediatrics, Heinrich Heine University, Dusseldorf, Germany
J Inherit Metab Dis 30:264. 2007..Some studies have analysed cognitive capacity but only few data are available on social status (educational qualification, interpersonal relationships, lifestyle) in adult patients, which is one measure for the success of treatment...
- Diagnosis of MSUD by newborn screening allows early intervention without extraneous detoxificationK Heldt
Clinic for General Pediatrics, University Children s Hospital Düsseldorf, Moorenstr 5, 40225 Dusseldorf, Germany
Mol Genet Metab 84:313-6. 2005....
- Changes in blood carnitine and acylcarnitine profiles of very long-chain acyl-CoA dehydrogenase-deficient mice subjected to stressU Spiekerkoetter
University Children s Hospital, Dusseldorf, Germany
Eur J Clin Invest 34:191-6. 2004..In this paper we have used the VLCAD knockout mouse as a model to study changes in blood carnitine and acylcarnitine profiles under stress...
- Renal excretion of galactose and galactitol in patients with classical galactosaemia, obligate heterozygous parents and healthy subjectsP Schadewaldt
Klinik fur Allgemeine Padiatrie, Universitatsklinikum Dusseldorf, Dusseldorf, Germany
J Inherit Metab Dis 26:459-79. 2003....
- Renal clearance of branched-chain L-amino and 2-oxo acids in maple syrup urine diseaseP Schadewaldt
Diabetes Forschungsinstitut an der Heinrich Heine Universität, Dusseldorf, Germany
J Inherit Metab Dis 22:706-22. 1999..The renal excretion of BCOA, however, to some extent counteracts increases in BCAA concentrations and thus contributes to the lowering of total BCAA pools in MSUD...
- Simple method for the routine determination of betaine and N,N-dimethylglycine in blood and urineM D Laryea
Heinrich Heine University, Children s Hospital, Metabolic Unit, Dusseldorf, Germany
Clin Chem 44:1937-41. 1998..For betaine, the total and within-day CVs were 1.3-5.3% and 0.4-3.8%, respectively. The method is precise and cost-effective and has been used successfully to determine the concentrations of DMG and betaine in human plasma and urine...
- Significance of L-alloisoleucine in plasma for diagnosis of maple syrup urine diseaseP Schadewaldt
Diabetes Forschungsinstitut and Kinderklinik, Heinrich Heine Universitat, D 40225 Dusseldorf, Germany
Clin Chem 45:1734-40. 1999..The significance of plasma L-alloisoleucine, which is derived from L-isoleucine in vivo, for diagnosis of maple syrup urine disease (MSUD) was examined...
- Analysis of concentration and (13)C enrichment of D-galactose in human plasmaP Schadewaldt
Deutsches Diabetes Forschungsinstitut an der Heinrich Heine Universität, Auf m Hennekamp 65, D 40225 Dusseldorf, Germany
Clin Chem 46:612-9. 2000..A stable-isotope dilution method for the sensitive determination of D-galactose in human plasma was established...
- Treatment recommendations in long-chain fatty acid oxidation defects: consensus from a workshopU Spiekerkoetter
Department of General Pediatrics, University Children s Hospital, Dusseldorf, Germany
J Inherit Metab Dis 32:498-505. 2009..On the basis of the collected data, recommendations are given with regard to the fat and carbohydrate content of the diet, the maximal length of fasting periods and the use of l-carnitine in long-chain fatty acid oxidation defects...
- [Signal changes of the bone marrow in MRI under long-term treatment with granulocyte colony-stimulating factors]A Scherer
Institut für Diagnostische Radiologie, Heinrich Heine Universitat Dusseldorf
Rofo 173:121-5. 2001..The aim of this study was to evaluate the changes occurring in bone marrow by magnetic resonance imaging (MRI) in these patients...
- Whole-body L-leucine oxidation in patients with variant form of maple syrup urine diseaseP Schadewaldt
Deutsches Diabetes Forschungsinstitut, Heinrich Heine Universitat Dusseldorf, Dusseldorf, Germany
Pediatr Res 49:627-35. 2001..Possible mechanisms are considered that might contribute to a comparatively high residual in vivo L-leucine oxidation in (mild) variant maple syrup urine disease...
- Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshopU Spiekerkoetter
Department of General Pediatrics, University Children s Hospital, Dusseldorf, Germany
J Inherit Metab Dis 32:488-97. 2009..In summary, in this cohort the treatment regimen was adapted to the severity of the underlying enzyme defect and thus differed among the group of long-chain FAO defects...
- Proton MR spectroscopy of the lumbar spine in patients with glycogen storage disease type IbA Scherer
Institute of Diagnostic Radiology, Heinrich Heine University, Medical Center, Dusseldorf, Germany
J Magn Reson Imaging 14:757-62. 2001..Upon granulocyte colony stimulating factor treatment, the water proton signal in the lumbar spine is not further augmented...
- Evidence for impaired gluconeogenesis in very long-chain acyl-CoA dehydrogenase-deficient miceU Spiekerkoetter
Department of General Pediatrics, University Children s Hospital, Moorenstrasse 5, 40225 Dusseldorf, Germany
Horm Metab Res 38:625-30. 2006..Whether this is due to lack of a substrate, inhibitory effects on other gluconeogenic enzymes or impaired transcription of gluconeogenic enzymes needs to be resolved in the future...
- Carnitine supplementation induces long-chain acylcarnitine production--studies in the VLCAD-deficient mouseM Liebig
Department of General Pediatrics, University Children s Hospital, Duesseldorf, Germany
J Inherit Metab Dis 29:343-4. 2006..Carnitine supplementation does not affect carnitine concentrations in tissues of wild-type and very long-chain acyl-CoA dehydrogenase-deficient mice, but results in an increase in long-chain acylcarnitine production...
- Carnitine-acylcarnitine carrier deficiency: identification of the molecular defect in a patientM Huizing
University Hospital, Department of Pediatrics, Nijmegen, The Netherlands
J Inherit Metab Dis 21:262-7. 1998
- Infantile presentation of the mtDNA A3243G tRNA(Leu (UUR)) mutationE J Okhuijsen-Kroes
Nijmegen Center for Mitochondrial Disorders at the Department of Pediatrics, University Medical Center Nijmegen, The Netherlands
Neuropediatrics 32:183-90. 2001....
- Cardiomyopathy and pericardial effusion in infancy point to a fatty acid b-oxidation defect after exclusion of an underlying infectionU Spiekerkoetter
Department of Pediatrics, Heinrich Heine University Hospital, Moorenstrasse 5, 40225 Duesseldorf, Germany
Pediatr Cardiol 24:295-7. 2003..Because specific noninvasive treatment is available in fatty acid b-oxidation defects that reverses cardiomyopathy and pericardial effusion, early diagnosis is essential to adjust therapy accordingly...
- Maple syrup urine disease: mutation analysis in Turkish patientsA Dursun
Hacettepe University School of Medicine, Department of Pediatrics, Ankara, Turkey
J Inherit Metab Dis 25:89-97. 2002..The deletion spans the cleavage point between mitochondrial targeting and lipoyl-bearing site of the E2 protein...
- Molecular analysis in glycogen storage disease 1 non-A: DHPLC detection of the highly prevalent exon 8 mutations of the G6PT1 gene in German patientsR Santer
Dept of Pediatrics, University Children s Hospital, Kiel, Germany
Hum Mutat 16:177. 2000..Hum Mutat 16:177, 2000...
- The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-aM Veiga-da-Cunha
Laboratory of Physiological Chemistry, Brussels, Belgium
Eur J Hum Genet 7:717-23. 1999..Isolated defects in microsomal Pi transporter or in microsomal glucose transporter must be very rare or have phenotypes that are not recognised as GSD I, so that in practice there are only two subtypes of GSD I (GSD Ia and GSD Ib)...
- Dysmyelination in the brain of adolescents and young adults with maple syrup urine diseaseS Schonberger
Department for General Pediatrics, University Children s Hospital Düsseldorf, Moorenstr 5, Dusseldorf 40225, Germany
Mol Genet Metab 82:69-75. 2004..No patient with white matter changes had acute neurological/encephalopathic symptoms indicating that the severity of dysmyelination does not correlate to acute neurotoxicity...