International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up.

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galactosemia 5 endocrinologydiseases
hypogonadism 2 endocrinologydiseases
osteoporosis 1 endocrinologydiseases

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galactosemia 110 Journal of Inherited Metabolic DiseaseInternational clinical guideline for the management of classical galactosemia : diagnosis, treatment, and follow-upLindsey WellingLaurie E. BernsteinGerard T. BerryAlberto B. BurlinaFrançois
galactosemia 700 (epub): 11/2016Publication date (pmc-release): 11/2016Publication date (ppub): /2017AbstractClassical galactosemia (CG) is an inborn error of galactose metabolism. Evidence-based guidelines for the treatment and follow-up
galactosemia 3608 a galactose-restricted diet (e.g., soy-based, casein hydrolysate or elemental formula) if classical galactosemia is suspected in an infant, without waiting for confirmation of the diagnosis.Recommendation #5 (expert
galactosemia 4501 content <25 mg/100 g), and the food additives sodium or calcium caseinate, in the diet for classical galactosemia . Although higher in galactose, all fermented soy-based products can be allowed in the small quantities
galactosemia 15326 offered with appropriate institutional research ethics review board approval to girls with classical galactosemia at a young pre-pubertal age.Recommendation #33 (+)We do not recommend routine endocrinology follow-up
hypogonadism 12155 evaluations.Endocrinology/FertilityRecommendation #24 (++)Girls with CG should be screened for hypergonadotropic hypogonadism if they reach the age of 12 years with insufficient secondary sex characteristics or if they reach
hypogonadism 13936 clinically indicated.Recommendation #29 (expert opinion, +)We recommend that women with hypergonadotropic hypogonadism , or primary ovarian insufficiency should be provided counseling and support about their reproductive
osteoporosis 14213 replacement therapy should be initiated with the onset of secondary amenorrhea to reduce the risk of osteoporosis and other complications of primary ovarian insufficiency.Recommendation #30 (++)We recommend considering

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