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Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications.
- A. Schulze, M. Lindner, D. Kohlmüller, Katharina Olgemöller, E. Mayatepek, G. Hoffmann
- 1 June 2003
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.
Large neutral amino acids block phenylalanine transport into brain tissue in patients with phenylketonuria.
Results are relevant for further characterization of the LNAA carrier and of the pathophysiology underlying brain dysfunction in PKU and for treatment of patients with PKU, as brain function might be improved by continued LN AA supplementation.
Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease.
In extensive live cell studies with patient-derived skin fibroblasts, the results indicate apparent differences to drug therapy on the cellular level, depending on the severity of the catalytic defect and identify modulators of cellular Ca(2+) homeostasis as new candidates in the therapy of complex I deficiency.
Long-term follow-up of 114 patients with congenital hyperinsulinism.
- T. Meissner, U. Wendel, P. Burgard, Silvia Schaetzle, E. Mayatepek
- MedicineEuropean journal of endocrinology
- 1 July 2003
The high degree of developmental delay, in particular in infancy-onset patients, emphasizes the need for a change in treatment strategies to improve the unfavorable outcome and Evaluation of treatment alternatives should take the high risk of developing diabetes mellitus into account.
Creatine deficiency syndrome caused by guanidinoacetate methyltransferase deficiency: diagnostic tools for a new inborn error of metabolism.
Neurodegeneration in Methylmalonic Aciduria Involves Inhibition of Complex II and the Tricarboxylic Acid Cycle, and Synergistically Acting Excitotoxicity*
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.
Dialysis in neonates with inborn errors of metabolism.
- F. Schaefer, E. Straube, J. Oh, O. Mehls, E. Mayatepek
- Medicine, BiologyNephrology, dialysis, transplantation : official…
- 1 April 1999
Of the eight children presenting with hyperammonaemic coma, the four with the most rapid dialytic ammonia removal rate survived with no or moderate mental retardation, whereas slower toxin removal was always associated with a lethal outcome.
A guide to diagnosis and treatment of Leigh syndrome
- F. Baertling, R. Rodenburg, F. Distelmaier
- Medicine, BiologyJournal of Neurology, Neurosurgery & Psychiatry
- 14 June 2013
The most important clinical aspects of Leigh syndrome are reviewed, and diagnostic steps as well as treatment options are discussed.
Clinical, biochemical and molecular genetic characteristics of 19 patients with the Sjögren-Larsson syndrome.
The vast majority of SLS patients seem to be severely affected independent of their genotype, as might be predicted from the essential role of FALDH in leucotriene B(4) (LTB(4)) metabolism, elevated urinary concentrations of LTB( 4) and 20-OH-LTB (4) were found in all patients studied.
Clinical and biochemical phenotype in 11 patients with mevalonic aciduria.
It is concluded that although patients with mevalonic aciduria have a recognizable phenotype of serious clinical manifestations, some patients are likely to remain undiagnosed and may be found in a variety of subspecialty clinics, including neurology, gastroenterology, cardiology, and genetics.