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Early treatment of Menkes disease with parenteral copper-histidine: long-term follow-up of four treated patients.
TLDR
Despite the favorable effects on the neurological symptoms, parenteral copper treatment for Menkes disease should still be regarded as experimental and the development of more effective treatments must await a more precise delineation of the role which the Menkes protein plays in intracellular copper trafficking. Expand
Hemolytic-uremic syndrome associated with neuraminidase-producing microorganisms: treatment by exchange transfusion.
TLDR
The place of exchange transfusions using washed RBC or heparinized whole blood in the management of this subgroup of HUS is discussed and reaction between the exposed T-antigen and anti-T agglutinin can lead to difficulties in serological testing and during blood transfusion. Expand
The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe
We investigated the molecular basis of hereditary fructose intolerance (HFI) in 80 patients from 72 families by means of a PCR‐based mutation screening strategy, consisting of heteroduplex analysis,Expand
Menkes' disease: long-term treatment with copper and D-penicillamine
TLDR
It is suggested that parenteral copperhistidine supplemented by oral D-penicillamine may be of benefit to early-treated patients with Menkes' disease. Expand
Staphylococcal IgE antibodies, hyperimmunoglobulinemia E and Staphylococcus aureus infections.
TLDR
Two girls with chronic eczema, recurrent staphylococcal infections and an abnormal inflammatory response with the formation of "cold" staphlyococcal abscesses are described. Expand
The use of deuterated phenylalanine for the elucidation of the phenylalanine-tyrosine metabolism.
TLDR
The application in vivo of stable isotopes, e.g. deuterium, for the study of metabolic pathways is demonstrated on the example of the phenylalanine-tyrosine metabolism on the basis of the loading test in phenylketonuric as well as in hyperphenylalaninemic patients. Expand
The ontogeny of amino acid transport in rat kidney. II. Kinetics of uptake and effect of anoxia.
TLDR
Transport in newborn kidney by the high -K m system is relatively protected from anoxia, indicating that ontogeny affects both total and specific activity of membrane transport systems in kidney. Expand
Excretion of pterins in phenylketonuria and phenylketonuria variants.
TLDR
It seems likely that PKU variants due to BH4 deficiency could be detected early and differentiated by measurement of urinary B, Ne and C, and extreme pterin patterns were observed. Expand
In vivo studies of the phenylalanine-4-hydroxylase system in hyperphenylalaninemics and phenylketonurics.
TLDR
An in vivo determination of the phenylalanine-4-hydroxylase (E. C.16.1) activity is described and the remaining enzyme activity in hyperphenylalaninemics and in PKU patients can be estimated with relatively high accuracy. Expand
Hereditary fructose intolerance in early childhood: a major diagnostic challenge. Survey of 20 symptomatic cases.
TLDR
How difficult the diagnosis of this disease can be both in practice and in hospital is documents how difficult it is to diagnose hereditary fructose intolerance. Expand
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