FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4313466066> ?p ?o ?g. }

• W4313466066 endingPage "10" @default.
• W4313466066 startingPage "10" @default.
• W4313466066 abstract "Galactosemia is an inborn metabolic disorder caused by a deficient activity in one of the enzymes involved in the metabolism of galactose. The first description of galactosemia in newborns dates from 1908, ever since complex research has been performed on cell and animal models to gain more insights into the molecular and clinical bases of this challenging disease. In galactosemia, the newborn appears to be born in proper health, having a window of opportunity before developing major morbidities that may even be fatal following ingestion of milk that contains galactose. Galactosemia cannot be cured, but its negative consequences on health can be avoided by establishing precocious diagnosis and treatment. All the foods that contain galactose should be eliminated from the diet when there is a suspicion of galactosemia. The neonatal screening for galactosemia can urge early diagnosis and intervention, preventing complications. All galactosemia types may be detected during the screening of newborns for this disorder. The major target is, however, galactose-1-phosphate uridyltransferase (GALT) deficiency galactosemia, which is diagnosed by applying a combination of total galactose and GALT enzyme analysis as well as, in certain programs, mutation screening. Most critically, infants who exhibit symptoms suggestive of galactosemia should undergo in-depth testing for this condition even when the newborn screening shows normal results. The decision to enroll global screening for galactosemia among the specific population still faces many challenges. In this context, the present narrative review provides an updated overview of the incidence, clinical manifestations, diagnosis, therapy, and prognosis of galactosemia, questioning under the dome of these aspects related to the disease the value of its neonatal monitoring." @default.
• W4313466066 created "2023-01-06" @default.
• W4313466066 creator A5008009943 @default.
• W4313466066 creator A5008976555 @default.
• W4313466066 creator A5019755706 @default.
• W4313466066 date "2022-12-20" @default.
• W4313466066 modified "2023-10-16" @default.
• W4313466066 title "The Importance of Neonatal Screening for Galactosemia" @default.
• W4313466066 cites W1493277429 @default.
• W4313466066 cites W1561815986 @default.
• W4313466066 cites W1907130758 @default.
• W4313466066 cites W1991565078 @default.
• W4313466066 cites W1994497616 @default.
• W4313466066 cites W2003116752 @default.
• W4313466066 cites W2020100965 @default.
• W4313466066 cites W2026350419 @default.
• W4313466066 cites W2038911309 @default.
• W4313466066 cites W2044121406 @default.
• W4313466066 cites W2046018962 @default.
• W4313466066 cites W2048715905 @default.
• W4313466066 cites W2049502038 @default.
• W4313466066 cites W2058770856 @default.
• W4313466066 cites W2122593361 @default.
• W4313466066 cites W2124782654 @default.
• W4313466066 cites W2159123760 @default.
• W4313466066 cites W2160304663 @default.
• W4313466066 cites W2160349498 @default.
• W4313466066 cites W2165777915 @default.
• W4313466066 cites W2168933002 @default.
• W4313466066 cites W2188260736 @default.
• W4313466066 cites W2462295205 @default.
• W4313466066 cites W2499954606 @default.
• W4313466066 cites W2553074307 @default.
• W4313466066 cites W2567626615 @default.
• W4313466066 cites W2590777861 @default.
• W4313466066 cites W2591766926 @default.
• W4313466066 cites W2605270036 @default.
• W4313466066 cites W2676340947 @default.
• W4313466066 cites W2736205846 @default.
• W4313466066 cites W2749333834 @default.
• W4313466066 cites W2754985708 @default.
• W4313466066 cites W2766114666 @default.
• W4313466066 cites W2791934206 @default.
• W4313466066 cites W2792676835 @default.
• W4313466066 cites W2803640824 @default.
• W4313466066 cites W2807723531 @default.
• W4313466066 cites W2889561989 @default.
• W4313466066 cites W2889776806 @default.
• W4313466066 cites W2897908095 @default.
• W4313466066 cites W2901727832 @default.
• W4313466066 cites W2905772767 @default.
• W4313466066 cites W2907094040 @default.
• W4313466066 cites W2911727954 @default.
• W4313466066 cites W2918010488 @default.
• W4313466066 cites W2922111323 @default.
• W4313466066 cites W2922279615 @default.
• W4313466066 cites W2945454818 @default.
• W4313466066 cites W2966468896 @default.
• W4313466066 cites W2974707976 @default.
• W4313466066 cites W2992455925 @default.
• W4313466066 cites W3000046224 @default.
• W4313466066 cites W3003172348 @default.
• W4313466066 cites W3017257748 @default.
• W4313466066 cites W3076126995 @default.
• W4313466066 cites W3083460639 @default.
• W4313466066 cites W3104656514 @default.
• W4313466066 cites W3121550594 @default.
• W4313466066 cites W3128883910 @default.
• W4313466066 cites W3137539307 @default.
• W4313466066 cites W3161033069 @default.
• W4313466066 cites W3164531370 @default.
• W4313466066 cites W3174412187 @default.
• W4313466066 cites W3211042927 @default.
• W4313466066 cites W3215002872 @default.
• W4313466066 cites W355108514 @default.
• W4313466066 cites W400810670 @default.
• W4313466066 cites W4200104296 @default.
• W4313466066 cites W4200255297 @default.
• W4313466066 cites W4200403701 @default.
• W4313466066 cites W4213163892 @default.
• W4313466066 cites W4213308417 @default.
• W4313466066 cites W4213434614 @default.
• W4313466066 cites W4221093352 @default.
• W4313466066 cites W4229374540 @default.
• W4313466066 cites W4285023888 @default.
• W4313466066 cites W4289436704 @default.
• W4313466066 cites W62570093 @default.
• W4313466066 cites W771098527 @default.
• W4313466066 doi "https://doi.org/10.3390/nu15010010" @default.
• W4313466066 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/36615667" @default.
• W4313466066 hasPublicationYear "2022" @default.
• W4313466066 type Work @default.
• W4313466066 citedByCount "0" @default.
• W4313466066 crossrefType "journal-article" @default.
• W4313466066 hasAuthorship W4313466066A5008009943 @default.
• W4313466066 hasAuthorship W4313466066A5008976555 @default.
• W4313466066 hasAuthorship W4313466066A5019755706 @default.
• W4313466066 hasBestOaLocation W43134660661 @default.

• next