Eighteen-year follow-up of a patient with partial hypoxanthine phosphoribosyltransferase deficiency and a new mutation
✍ Scribed by Alojz Gregorič; Gwenda M. Rabelink; Nadja Kokalj Vokač; Nataša Marčun Varda; Boris Zagradišnik
- Publisher
- Springer
- Year
- 2005
- Tongue
- English
- Weight
- 123 KB
- Volume
- 20
- Category
- Article
- ISSN
- 0931-041X
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
## Abstract Cobalamin F disease (cblF) is a rare disorder of intracellular cobalamin metabolism resulting in failure to thrive, recurrent stomatitis, skin rash, megaloblastic anemia, hypotonia, seizures, and intellectual disability. Data on long‐term outcomes are not available. We report on the out
Geleophysic dysplasia (MIM \*231050) is a rare autosomal recessive disorder, characterized by short stature with short limbs, brachydactyly, joint contractures, and a good-natured facial appearance. Infiltration of liver and cardiac leaflets has been reported in some patients. Based on the clinical