Bernd Schwahn
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View article: Brain Magnetic Resonance Imaging of Children With Molybdenum Cofactor Deficiency
Brain Magnetic Resonance Imaging of Children With Molybdenum Cofactor Deficiency Open
Molybdenum cofactor deficiency (MoCD) is a rare differential diagnosis of neonatal hypoxic ischemic encephalopathy (HIE) with considerable variation in presentation and treatment outcomes. The temporospatial evolution of brain MRI appearan…
View article: Successful Treatment of Severe Hepatopulmonary Syndrome as a Rare Complication of Zellweger Spectrum Disorder
Successful Treatment of Severe Hepatopulmonary Syndrome as a Rare Complication of Zellweger Spectrum Disorder Open
We report the case of an 11‐year‐old girl who developed hepatopulmonary syndrome (HPS) as a rare complication of Zellweger spectrum disorder and was successfully treated with liver transplantation. Our patient presented with neonatal senso…
View article: Benefits of Integrated Social Care in the Management of Patients With Inborn Errors of Metabolism
Benefits of Integrated Social Care in the Management of Patients With Inborn Errors of Metabolism Open
The current cornerstone of the management of many small‐molecule inborn errors of metabolism (IEMs) is a combination of dietary therapy and medication, with evidence for improved clinical outcomes. However, the burden imposed on patients a…
View article: Glycerol intoxication syndrome in young children, following the consumption of slush ice drinks
Glycerol intoxication syndrome in young children, following the consumption of slush ice drinks Open
Introduction Slush ice drinks are commonly available refreshments, aimed at children and young people. Glycerol is used to maintain the slush effect in the absence of a high sugar content. Objective To describe a series of children who bec…
View article: Increased Survival in Patients With Molybdenum Cofactor Deficiency Type A Treated With Cyclic Pyranopterin Monophosphate
Increased Survival in Patients With Molybdenum Cofactor Deficiency Type A Treated With Cyclic Pyranopterin Monophosphate Open
Molybdenum cofactor deficiency (MoCD) Type A is an ultrarare disorder causing neurodegeneration and early death. Cyclic pyranopterin monophosphate (cPMP), a molybdenum cofactor precursor, is a therapeutic option for patients with MoCD Type…
View article: Long-term use of investigational β-Hydroxybutyrate salts in children with multiple acyl-CoA dehydrogenase or pyruvate dehydrogenase deficiency
Long-term use of investigational β-Hydroxybutyrate salts in children with multiple acyl-CoA dehydrogenase or pyruvate dehydrogenase deficiency Open
View article: Consensus guidelines for the diagnosis and management of isolated sulfite oxidase deficiency and molybdenum cofactor deficiencies
Consensus guidelines for the diagnosis and management of isolated sulfite oxidase deficiency and molybdenum cofactor deficiencies Open
Sulfite intoxication is the hallmark of four ultrarare disorders that are caused by impaired sulfite oxidase activity due to genetic defects in the synthesis of the molybdenum cofactor or of the apoenzyme sulfite oxidase. Delays on the dia…
View article: Anticipatory banking of samples enables diagnosis of adenylosuccinase deficiency following molecular autopsy in an infant with vacuolating leukoencephalopathy
Anticipatory banking of samples enables diagnosis of adenylosuccinase deficiency following molecular autopsy in an infant with vacuolating leukoencephalopathy Open
Adenylosuccinase deficiency is a rare inborn error of metabolism. We present a newborn who died at 52 days of age with clinical features suggestive of severe epileptic encephalopathy and leukodystrophy of unknown cause. Post‐mortem examina…
View article: Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H2S homeostasis
Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H2S homeostasis Open
View article: Molybdenum cofactor deficiency: A natural history
Molybdenum cofactor deficiency: A natural history Open
Molybdenum cofactor deficiency (MoCD) includes three ultrarare autosomal recessive inborn errors of metabolism (MoCD type A [MoCD‐A], MoCD‐B, and MoCD‐C) that cause sulfite intoxication disorders. This natural history study analyzed retros…
View article: Homocysteine-betaine interactions in a murine model of 5,10-methylenetetrahydrofolate reductase deficiency.
Homocysteine-betaine interactions in a murine model of 5,10-methylenetetrahydrofolate reductase deficiency. Open
Hyperhomocysteinemia, a proposed risk factor for cardiovascular disease, is also observed in other common disorders. The most frequent genetic cause of hyperhomocysteinemia is a mutated methylenetetrahydrofolate reductase (MTHFR), predomin…
View article: The natural history of glycogen storage disease type Ib in England: A multisite survey
The natural history of glycogen storage disease type Ib in England: A multisite survey Open
Glycogen storage disease type Ib (GSDIb) is characterized by hepatomegaly and fasting hypoglycaemia as well as neutropaenia and recurrent infections. We conducted a retrospective observational study on a cohort of patients with GSDIb acros…
View article: Fosdenopterin: a First-in-class Synthetic Cyclic Pyranopterin Monophosphate for the Treatment of Molybdenum Cofactor Deficiency Type A
Fosdenopterin: a First-in-class Synthetic Cyclic Pyranopterin Monophosphate for the Treatment of Molybdenum Cofactor Deficiency Type A Open
View article: Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidence
Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidence Open
CBS deficient individuals undergoing betaine supplementation without sufficient dietary methionine restriction can develop severe hypermethioninemia and brain edema. Brain edema has also been observed in individuals with severe hypermethio…
View article: Human Mitochondrial HMG-CoA Synthase Deficiency: Role of Enzyme Dimerization Surface and Characterization of Three New Patients
Human Mitochondrial HMG-CoA Synthase Deficiency: Role of Enzyme Dimerization Surface and Characterization of Three New Patients Open
Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency (mitochondrial HMG-CoA synthase deficiency or mHS deficiency, OMIM #605911) is an inborn error of metabolism that affects ketone body synthesis. Acute episodes include vomiti…
View article: Guidelines for diagnosis and management of the cobalamin‐related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency
Guidelines for diagnosis and management of the cobalamin‐related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency Open
Background Remethylation defects are rare inherited disorders in which impaired remethylation of homocysteine to methionine leads to accumulation of homocysteine and perturbation of numerous methylation reactions. Objective To summarise cl…
View article: Immediate versus delayed loading of strategic mini dental implants for the stabilization of partial removable dental prostheses: a patient cluster randomized, parallel-group 3-year trial
Immediate versus delayed loading of strategic mini dental implants for the stabilization of partial removable dental prostheses: a patient cluster randomized, parallel-group 3-year trial Open