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phosphoglucomutase/atrophy
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4 results
[A case of adult onset phosphoglucomutase deficiency].
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A case of 38-year-old male with adult onset phosphoglucomutase (PGM) deficiency was reported. The patient was admitted at Kawamura Hospital (Gifu City) for evaluation of easy fatiguability and exercise-induced weakness of the extremities since he was 20 years old. Physical examination revealed
Skeletal muscle proteomics: carbohydrate metabolism oscillates with seasonal and torpor-arousal physiology of hibernation.
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The physiology of small mammalian hibernators shifts profoundly over a year, from summer homeothermy to winter heterothermy. Torpor-arousal cycles define high-amplitude tissue activity fluctuations in winter, particularly for skeletal muscle, which contributes to the energetically demanding
Minimizing false positive diagnoses in newborn screening for galactosemia.
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Heat and humidity, rather than summertime heat alone, cause extensive loss of galactose-1-phosphate uridyltransferase activity in mailed blood spots and seem to account for false positive diagnoses of galactosemia. The spots are partially protected from the effects of atmospheric humidity if they
Testicular expression of synaptonemal complex protein 3 (SYCP3) messenger ribonucleic acid in 110 patients with nonobstructive azoospermia.
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OBJECTIVE
To determine the expression of the synaptonemal complex protein-3 (SYCP3) gene in men with nonobstructive azoospermia.
METHODS
Cross-sectional case study.
METHODS
Avesina Infertility Clinic, Tehran, Iran.
METHODS
One hundred and ten consecutive infertile men presenting nonobstructive
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