A case of mucolipidosis II presenting with prenatal skeletal dysplasia and severe secondary hyperparathyroidism at birth
Ju Sun Heo (Heo JS), Ka Young Choi (Choi KY), Se Hyoung Sohn (Sohn SH), Curie Kim (Kim C), Yoon Joo Kim (Kim YJ), Seung Han Shin (Shin SH), Jae Myung Lee (Lee JM), Juyoung Lee (Lee J), Jin A Sohn (Sohn JA), Byung Chan Lim (Lim BC), Jin A Lee (Lee JA), Chang Won Choi (Choi CW), Ee-Kyung Kim (Kim EK), Han-Suk Kim (Kim HS), Beyong Il Kim (Kim BI), Jung-Hwan Choi (Choi JH)
Clin Exp Pediatr. 2012;55(11):438-444.   Published online 2012 Nov 23     DOI: https://doi.org/10.3345/kjp.2012.55.11.438
Citations to this article as recorded by Crossref logo
Unlocking the Enigma: Investigating I-Cell Disease in a Newborn Through Placental Pathology
Ossama Hassan, Arijit Lodha, Morgan Lafontaine, Abhay Lodha, Essa Al Awad
Indian Journal of Pediatrics.2024;[Epub]     CrossRef
Development of AAV-Mediated Gene Therapy Approaches to Treat Skeletal Diseases
Chujiao Lin, Matthew B. Greenblatt, Guangping Gao, Jae-Hyuck Shim
Human Gene Therapy.2024;[Epub]     CrossRef
Secondary Hyperparathyroidism in Children with Mucolipidosis Type II (I-Cell Disease): Irish Experience
Ritma Boruah, Ahmad Ardeshir Monavari, Tracey Conlon, Nuala Murphy, Andreea Stroiescu, Stephanie Ryan, Joanne Hughes, Ina Knerr, Ciara McDonnell, Ellen Crushell
Journal of Clinical Medicine.2022; 11(5): 1366.     CrossRef
Mucolipidoses Overview: Past, Present, and Future
Shaukat A. Khan, Saori C. Tomatsu
International Journal of Molecular Sciences.2020; 21(18): 6812.     CrossRef
Identification of predominant GNPTAB gene mutations in Eastern Chinese patients with mucolipidosis II/III and a prenatal diagnosis of mucolipidosis II
Yu Wang, Jun Ye, Wen-juan Qiu, Lian-shu Han, Xiao-lan Gao, Li-li Liang, Xue-fan Gu, Hui-wen Zhang
Acta Pharmacologica Sinica.2019; 40(2): 279.     CrossRef
The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update onGNPTABandGNPTGmutations
Renata Voltolini Velho, Frederike L. Harms, Tatyana Danyukova, Nataniel F. Ludwig, Michael J. Friez, Sara S. Cathey, Mirella Filocamo, Barbara Tappino, Nilay Güneş, Beyhan Tüysüz, Karen L. Tylee, Kathryn L. Brammeier, Lesley Heptinstall, Esmee Oussoren, A
Human Mutation.2019;[Epub]     CrossRef
A neonate with mucolipidosis II and transient secondary hyperparathyroidism
Carlos Leyva, Maria Buch, Klaas J. Wierenga, Gary Berkovitz, Tossaporn Seeherunvong
Journal of Pediatric Endocrinology and Metabolism.2019; 32(12): 1399.     CrossRef
A system‐based approach to the genetic etiologies of non‐immune hydrops fetalis
Anne H. Mardy, Shilpa P. Chetty, Mary E. Norton, Teresa N. Sparks
Prenatal Diagnosis.2019; 39(9): 732.     CrossRef
Clinical, biochemical and molecular characterization of Korean patients with mucolipidosis II/III and successful prenatal diagnosis
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
Orphanet Journal of Rare Diseases.2017;[Epub]     CrossRef
Mutation Analysis of 16 Mucolipidosis II and III Alpha/Beta Chinese Children Revealed Genotype-Phenotype Correlations
Shuang Liu, Weimin Zhang, Huiping Shi, Fengxia Yao, Min Wei, Zhengqing Qiu, Qinghua Sun
PLOS ONE.2016; 11(9): e0163204.     CrossRef
A case of I-cell disease (mucolipidosis II) presenting with short femurs on prenatal ultrasound and profound diaphyseal cloaking
Thomas Capobres, Gauravi Sabharwal, Brent Griffith
BJR|case reports.2016; 2(3): 20150420.     CrossRef
Révélation néonatale d’une mucolipidose de type II
F. Hmami, A. Oulmaati, A. Bouharrou
Archives de Pédiatrie.2016; 23(1): 71.     CrossRef
Pitfalls in the prenatal diagnosis of mucolipidosis II alpha/beta: A case report
Taciane Alegra, Tiago Koppe, Angelina Acosta, Manoel Sarno, Maira Burin, Rejane Gus Kessler, Fernanda Sperb-Ludwig, Gabriela Cury, Guilherme Baldo, Ursula Matte, Roberto Giugliani, Ida Vanessa D. Schwartz
Meta Gene.2014; 2: 403.     CrossRef
Bone Development and Mineral Homeostasis in the Fetus and Neonate: Roles of the Calciotropic and Phosphotropic Hormones
Christopher S. Kovacs
Physiological Reviews.2014; 94(4): 1143.     CrossRef