Literature DB >> 10604151

Galactosaemia presenting as congenital pseudoafibrinogenaemia.

M Ruiz1, S Jover, M Armas, M R Duque, C Santana, M L Girós, M D Boleda.   

Abstract

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Year:  1999        PMID： 10604151     DOI： 10.1023/a:1005660011709

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  3 in total

Review 1.  Galactosaemia: pathogenesis and treatment.

Authors:  J B Holton
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

Review 2.  Vitreous hemorrhage as an ophthalmic complication of galactosemia.

Authors:  H L Levy; A E Brown; S E Williams; E de Juan
Journal:  J Pediatr       Date:  1996-12       Impact factor: 4.406

3.  [Anomalies of hemostasis during the neonatal period in 4 cases of congenital galactosemia].

Authors:  B Lauras; C Barriere; M T Freycon; G Teyssier; F Freycon
Journal:  Pediatrie       Date:  1983 Jan-Feb
  3 in total
  2 in total

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

Authors:  Tat-Thanh Nguyen; Quang-Thanh Le; Diem-Tuyet Thi Hoang; Huu Du Nguyen; Thi Minh Thi Ha; My-Nhi Ba Nguyen; Thanh-Thuy Thi Ta; Nhat Thang Tran; Thu Huong Nhat Trinh; Kim Phuong Thi Doan; Duc Tam Lam; Son Tra Thi Tran; Thanh Xuan Nguyen; Hong-Thinh Le; Van Tuan Ha; Manh Hoan Nguyen; Ba-Liem Kim Le; My Linh Duong; Trung Ha Pham; Anh Tuan Tran; Xuan Lan Thi Phan; Thanh Liem Huynh; Lan-Phuong Thi Nguyen; Thanh Binh Vo; Duy-Khang Nguyen Le; Ngoc Nhu Thi Tran; Quynh Nhu Thi Tran; Yen-Linh Thi Van; Bich-Ngoc Thi Huynh; Thanh-Phương Thi Nguyen; Trang Thi Dao; Lan Phuong Thi Nguyen; Truong-Giang Vo; Thanh-Thuy Thi Do; Dinh-Kiet Truong; Hung Sang Tang; Minh-Duy Phan; Hoai-Nghia Nguyen; Hoa Giang
Journal:  Mol Genet Genomic Med       Date:  2022-05-03       Impact factor: 2.473

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

Authors:  S Senemar; Ah Ganjekarimi; S Senemar; B Tarami; M Bazrgar
Journal:  Iran J Public Health       Date:  2011-12-31       Impact factor: 1.429
  2 in total

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