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A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype.
TLDR
The classification of 105 PAH mutations may allow the prediction of the biochemical phenotype in >10,000 genotypes, which may be useful for the management of hyperphenylalaninemia in newborns. Expand
Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications.
TLDR
The screening by MS/MS for up to 23 additional disorders has approximately doubled the detection rate compared with that achieved by the conventional methods used in Germany. Expand
Diagnosis and management of glutaric aciduria type I – revised recommendations
TLDR
The major aim of this revision is to re-evaluate the previous diagnostic and therapeutic recommendations for patients with this disease and incorporate new research findings into the guideline. Expand
Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy
TLDR
Findings suggest a fundamental role of the autophagy pathway in the immune system and the anatomical and functional formation of organs such as the brain and heart in individuals with mutant EPG5. Expand
Natural History, Outcome, and Treatment Efficacy in Children and Adults with Glutaryl-CoA Dehydrogenase Deficiency
TLDR
It is demonstrated that timely diagnosis in neurologically asymptomatic patients followed by treatment with l-carnitine and a lysine-restricted diet was the best predictor of good outcome, whereas treatment efficacy was low in patients diagnosed after the onset of neurologic disease. Expand
Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidase.
TLDR
Maintenance of optimal PLP levels in the brain may be important in many neurological disorders in which neurotransmitter metabolism is disturbed (either as a primary or as a secondary phenomenon). Expand
Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome
TLDR
Increased levels of immunoglobulin D and, in most patients of immunglobulin A, in combination with enhanced excretion of mevalonic acid provide strong evidence for HIDS, and genetic counseling should be offered to families at risk. Expand
Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency.
TLDR
In presymptomatic children with GDD, the onset of neurological disease can be prevented by vigorous treatment of catabolic crises during illnesses together with carnitine supplementation. Expand
Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis.
TLDR
To recapitulate all available evidence on clinical phenotypes and rational diagnostic and therapeutic approaches for this devastating, but treatable, neurometabolic disorder, 36 patients with tyrosine hydroxylase deficiency were studied and the literature was reviewed. Expand
Neurodegeneration in Methylmalonic Aciduria Involves Inhibition of Complex II and the Tricarboxylic Acid Cycle, and Synergistically Acting Excitotoxicity*
TLDR
It is reported that MMA induces neuronal damage in cultures of embryonic rat striatal cells at a concentration range encountered in affected patients, and the involvement of secondary excitotoxic mechanisms in MMA-induced cell damage is suggested. Expand
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