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5 in total

1. Clinical, biochemical and molecular characterization of Korean patients with mucolipidosis II/III and successful prenatal diagnosis.

Authors: Mina Yang; Sung Yun Cho; Hyung-Doo Park; Rihwa Choi; Young-Eun Kim; Jinsup Kim; Soo-Youn Lee; Chang-Seok Ki; Jong-Won Kim; Young Bae Sohn; Junghan Song; Dong-Kyu Jin
Journal: Orphanet J Rare Dis Date: 2017-01-17 Impact factor: 4.123

2. Neonatal mucolipidosis type II alpha/beta due to compound heterozygosity for a known and novel GNPTAB mutation, and a concomitant heterozygous change in SERPINF1 inherited from the mother.

Authors: Kirsten A Wood; Regina M Zambrano; Bradley J Cheek; Christopher Arcement; Marie Haymon; Jessica Steinkampf; Srirangan Sampath; James C Hyland; Yves Lacassie
Journal: Clin Case Rep Date: 2017-02-24

3. Secondary Hyperparathyroidism in Children with Mucolipidosis Type II (I-Cell Disease): Irish Experience.

Authors: Ritma Boruah; Ahmad Ardeshir Monavari; Tracey Conlon; Nuala Murphy; Andreea Stroiescu; Stephanie Ryan; Joanne Hughes; Ina Knerr; Ciara McDonnell; Ellen Crushell
Journal: J Clin Med Date: 2022-03-02 Impact factor: 4.241

4. Mutation Analysis of 16 Mucolipidosis II and III Alpha/Beta Chinese Children Revealed Genotype-Phenotype Correlations.

Authors: Shuang Liu; Weimin Zhang; Huiping Shi; Fengxia Yao; Min Wei; Zhengqing Qiu
Journal: PLoS One Date: 2016-09-23 Impact factor: 3.240

5. Mucolipidosis II: first report from Saudi Arabia.

Authors: Majid Alfadhel; Wafaa AlShehhi; Hesham Alshaalan; Mohammed Al Balwi; Wafaa Eyaid; Wafaa Eyaida
Journal: Ann Saudi Med Date: 2013 Jul-Aug Impact factor: 1.526

5 in total