中文 | English
Return
Total: 35 , 1/4
Show Home Prev Next End page: GO
MeSH:( Galactosemias)

1.Clinical, biochemical and molecular profile of variant Galactosemia in children detected by National Newborn Screening: A pilot study

Sylvia Capistrano-Estrada ; Daffodil M. Canson ; Catherine Lynn T. Silao

Acta Medica Philippina 2017;51(3):197-201

3.Annual Report on External Quality Assessment in Inborn Error of Metabolism in Korea (2003).

Jong Won KIM ; Kye Chol KWON ; C H KIM ; W K MIN ; Byung Yoon BAIK ; Junghan SONG ; Soo Youn LEE ; Eun Hee LEE ; Tae Yoon CHOI

Journal of Laboratory Medicine and Quality Assurance 2004;26(1):137-146

4.Analysis of the Galactose-1-Phosphate Uridyltransferase (GALT) Gene in a Duarte Variant/classical Galactosemia (D/G) Compound Heterozygote.

Hye Ran YANG ; Jeong Eun KIM ; Jae Sung KO ; Jung Han SONG ; Sung Sup PARK ; Jeong Kee SEO

Korean Journal of Pediatric Gastroenterology and Nutrition 2003;6(1):84-89

5.Issues on universal screening for galactosemia.

Carmencita David PADILLA ; Stephen T S LAM

Annals of the Academy of Medicine, Singapore 2008;37(12 Suppl):39-33

6.Galactosemia among positive-screened patients who underwent lactose challenge: A review of records of the newborn screening program.

Mary Erika V. Orteza ; Mary Ann R. Abacan

Acta Medica Philippina 2024;58(18):56-63

7.Annual Report on External Quality Assessment in Inborn Error of Metabolism in Korea (2002).

Jong Won KIM ; Kye Chol KWON ; Jeong Ho KIM ; Won Ki MIN ; Myung Soo KIM ; Hai Jin HAN ; Junghan SONG ; Soo Youn LEE ; Eun Hee LEE ; Tae Yoon CHOI

Journal of Laboratory Medicine and Quality Assurance 2003;25(1):145-155

8.Galactosemia.

Song Hyun YANG

Hanyang Medical Reviews 2005;25(3):37-41

9.Clinical profiles and outcomes of the most common inherited metabolic diseases in the Philippines: A review of the National Institutes of Health - Institute of Human Genetics Metabolic Registry.

Monette R. FANER ; Mary Anne D. CHIONG

Acta Medica Philippina 2020;54(3):236-243

10.Clinical characteristics and genetic analysis of a child with Galactosemia due to compound heterozygous variants of GALT gene.

Zhenhua XIE ; Jing LIU ; Xian LI ; Mengjun XIAO ; Qiang ZHANG ; Zhenkun ZHANG ; Yaodong ZHANG ; Dongxiao LI

Chinese Journal of Medical Genetics 2023;40(7):842-846

Sort by Result Analysis

Display Mode

Output Records




File Type





Total: 35 , 1/4 Show Home Prev Next End page: GO