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Cryptorchidism concordance in monozygotic and dizygotic twin brothers, full brothers, and half-brothers

✍ Scribed by Morten Søndergaard Jensen; Gunnar Toft; Ane Marie Thulstrup; Tine Brink Henriksen; Jørn Olsen; Kaare Christensen; Jens Peter Bonde

Book ID
116474544
Publisher
Elsevier Science
Year
2010
Tongue
English
Weight
136 KB
Volume
93
Category
Article
ISSN
1556-5653

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Creatine transporter deficiency in two h
Creatine transporter deficiency in two half-brothers
✍ Orly Ardon; Cristina Amat di San Filippo; Gajja S. Salomons; Nicola Longo 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 174 KB

## Abstract X‐linked cerebral creatine deficiency is caused by the deficiency of the creatine transporter encoded by the __SLC6A8__ gene. Here, we report two half‐brothers with this condition and characterize creatine transport in human fibroblasts. The propositus presented at 6 months of age with