Georg F. Hoffmann
University Hospital Heidelberg
Publications 740
#2Majid Alfadhel (National Guard Health Affairs)H-Index: 15
Last.Fatma Al-Jasmi (United Arab Emirates University)H-Index: 8
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Deficiency of propionyl-CoA carboxylase causes propionic acidemia and deficiencies of methylmalonyl-CoA mutase or its cofactor adenosylcobalamin cause methylmalonic acidemia. These inherited disorders lead to pathological accumulation of propionyl-CoA which is converted in Krebs cycle to methylcitrate (MCA) in a reaction catalyzed by citrate synthase. In healthy individuals where no propionyl-CoA accumulation occurs, this enzyme drives the condensation of acetyl-CoA with oxaloacetate to produce ...
#1Ulrike Teufel (University of Freiburg)
#2Peter Burgard (University Hospital Heidelberg)H-Index: 35
Last.Stefan Kölker (University Hospital Heidelberg)H-Index: 39
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Background Neonatal manifestation of life-threatening hyperammonemic encephalopathy in urea cycle disorders (UCD) is often misdiagnosed as neonatal sepsis, resulting in significantly delayed start of specific treatment and poor outcome. The major aim of this study was to identify specific initial symptoms or signs to clinically distinguish hyperammonemic encephalopathy in neonates from neonatal sepsis in order to identify affected individuals with UCD and to start metabolic therapy without delay...
#1Ronny LehmannH-Index: 4
#2Anke SeitzH-Index: 1
Last.Sören HuwendiekH-Index: 10
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Pediatric emergencies challenge professional teams by demanding substantial cognitive effort, skills and effective teamwork. Educational designs for team trainings must be aligned to the needs of participants in order to increase effectiveness. To assess these needs, a survey among physicians and nurses of a tertiary pediatric center in Germany was conducted, focusing on previous experience, previous training in emergency care, and individual training needs. Fifty-three physicians and 75 nurses ...
#1Afshin Saffari (University Hospital Heidelberg)H-Index: 6
#2I. Brösse (University Hospital Heidelberg)H-Index: 1
Last.Steffen Syrbe (University Hospital Heidelberg)H-Index: 13
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Tuberous sclerosis complex (TSC) is a multisystem disease with prominent neurologic manifestations such as epilepsy, cognitive impairment and autism spectrum disorder. mTOR inhibitors have successfully been used to treat TSC-related manifestations in older children and adults. However, data on their safety and efficacy in infants and young children are scarce. The objective of this study is to assess the utility and safety of mTOR inhibitor treatment in TSC patients under the age of 2 years. A t...
2 CitationsSource
Pathogenic variants in neuroblastoma-amplified sequence (NBAS) cause an autosomal recessive disorder with a wide range of symptoms affecting liver, skeletal system, and brain, among others. There is a continuously growing number of patients but a lack of systematic and quantitative analysis. Individuals with biallelic variants in NBAS were recruited within an international, multicenter study, including novel and previously published patients. Clinical variables were analyzed with log-linear mode...
#1Lukas Schwingshackl (University of Freiburg)H-Index: 33
#2Marc Krause (University of Freiburg)H-Index: 6
Last.Joerg J. Meerpohl (University of Freiburg)H-Index: 36
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Abstract Background And Aim This network meta-analysis (NMA) compares the effects of different types of olive oil (OO) on cardiovascular risk factors. Methods And Results Literature search was conducted on three electronic databases (Medline, Web of Science, and Cochrane Central). Inclusion criteria: Randomized controlled trials (RCTs) (≥3 weeks duration of intervention) comparing at least two of the following types of OO: refined OO (ROO), mixed OO (MOO), low phenolic (extra) virgin OO (LP(E)VO...
2 CitationsSource
#1Gwendolyn Gramer (University Hospital Heidelberg)H-Index: 3
#2Junmin Fang-Hoffmann (University Hospital Heidelberg)H-Index: 1
Last.Jürgen G. Okun (University Hospital Heidelberg)H-Index: 34
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Objective To evaluate a systematic newborn screening (NBS) strategy for vitamin B12 deficiency. Study design In a prospective single-center NBS study, a systematic screening strategy for vitamin B12 deficiency was developed and evaluated. Tandem-mass spectrometry screening was complemented by 2 second-tier strategies, measuring methylmalonic/3-OH-propionic/methylcitric acid, and homocysteine from dried blood spots. Results In a cohort of 176 702 children screened over 27 months, 33 children were...
#1Shoko Komatsuzaki (Schiller International University)H-Index: 1
#2Matthias Zielonka (University Hospital Heidelberg)H-Index: 5
Last.Markus Ries (University Hospital Heidelberg)H-Index: 29
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Krabbe disease (OMIM 245200) is an orphan neurometabolic disorder caused by a deficiency of the lysosomal enzyme galactocerebrosidase (GALC). Hard clinical endpoints and biomarker–phenotype correlations are useful for future clinical trials. We performed a quantitative analysis of published cases (N = 248) with Krabbe disease, stratified by age at disease onset: early infantile (age 0–6 months), late infantile (age 7–36 months), juvenile/adolescent (age 37–180 months), and adult onset (>180 mont...
2 CitationsSource