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Identification of genetic mutations in Japanese patients with fructose-1,6-bisphosphatase deficiency.
TLDR
The results indicate that the insertion of one G residue at base 961 was associated with a preferential disease-causing alternation in 13 Japanese patients and accurate carrier detection in eight families of 11 Japanese patients with FBPase deficiency.
Urinary leukotriene E4 after exercise challenge in children with asthma.
Fatal Propionic Acidemia in Mice Lacking Propionyl-CoA Carboxylase and Its Rescue by Postnatal, Liver-specific Supplementation via a Transgene*
TLDR
Interestingly, SAP+PCCA−/− mice, in which the transgene expression increased after the late infant period, continued to grow normally while mice harboring a persistent low level of PCC died in theLate infant period due to severe ketoacidosis, clearly suggesting the requirement of increased PCC supplementation in proportion to the animal growth.
Exercise-Induced Urinary Excretion of Leukotriene E4 in Children with Atopic Asthma
TLDR
The findings suggest that exercise- induced asthma, or at least a subtype of exercise-induced asthma, may partly develop through the release of LTC4.
Failure to induce puberty in a man with X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism by pulsatile administration of low-dose gonadotropin-releasing hormone.
TLDR
It is concluded that hypogonadotropic hypogOnadism in a patient with X-linked congenital adrenal hypoplasia is due to the pituitary dysfunction and that the endogenous opioid peptides may not play a role in the mechanism of inhibited gonadotropin secretions.
cDNA sequences encoding human fructose 1,6-bisphosphatase from monocytes, liver and kidney: application of monocytes to molecular analysis of human fructose 1,6-bisphosphatase deficiency.
TLDR
Monocytes were useful as an alternative source for mRNA from human liver for the molecular analysis of fructose 1,6-bisphosphatase deficiency, and the Gly-214 (GGC) residue was therefore conserved in the enzymes hitherto isolated from humans and other animals.
Organic acids and branched-chain amino acids in body fluids before and after multiple exchange transfusions in maple syrup urine disease
TLDR
The treatment of a critically ill infant with the classical type of maple syrup urine disease by multiple exchange tranfusions via a peripheral artery and vein and with positive supplementation in the early stage of therapy supported the existence of minor metabolic pathways of branched-chain α-keto acids, although they were not though to be important in eliminating accumulated α- keto acids.
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