Galactosaemia Presenting As Congenital Pseudoafibrinogenaemia

Overview

Journal J Inherit Metab Dis

Publisher Wiley

Date 1999 Dec 22

PMID 10604151

Citations 3

Authors

M Ruiz

S Jover

M Armas

M R Duque

C Santana

M L Giros

M D Boleda

Affiliations

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Citing Articles

The Importance of Neonatal Screening for Galactosemia.

Tisa I, Achim A, Cozma-Petrut A Nutrients. 2023; 15(1).

PMID: 36615667 PMC: 9823668. DOI: 10.3390/nu15010010.

Massively parallel sequencing uncovered disease-associated variant spectra of glucose-6-phosphate dehydrogenase deficiency, phenylketonuria and galactosemia in Vietnamese pregnant women.

Nguyen T, Le Q, Hoang D, Nguyen H, Thi Ha T, Nguyen M Mol Genet Genomic Med. 2022; 10(7):e1959.

PMID: 35502621 PMC: 9266602. DOI: 10.1002/mgg3.1959.

The prevalence and clinical study of galactosemia disease in a pilot screening program of neonates, southern iran.

Ganjekarimi A, Senemar S, Tarami B, Bazrgar M Iran J Public Health. 2012; 40(4):99-104.

PMID: 23113108 PMC: 3481732.

References

Lauras B, Barriere C, FREYCON M, Teyssier G, Freycon F . [Anomalies of hemostasis during the neonatal period in 4 cases of congenital galactosemia]. Pediatrie. 1983; 38(1):23-8. View

HOLTON J . Galactosaemia: pathogenesis and treatment. J Inherit Metab Dis. 1996; 19(1):3-7. DOI: 10.1007/BF01799341. View

Levy H, Brown A, Williams S, de Juan Jr E . Vitreous hemorrhage as an ophthalmic complication of galactosemia. J Pediatr. 1996; 129(6):922-5. DOI: 10.1016/s0022-3476(96)70041-0. View