Sleep disordered breathing in childhood-onset acid maltase deficiency
โ Scribed by Shin Nabatame; Masako Taniike; Norio Sakai; Kumi Kato-Nishimura; Ikuko Mohri; Kuriko Kagitani-Shimono; Takeshi Okinaga; Naoko Tachibana; Keiichi Ozono
- Book ID
- 113498612
- Publisher
- Elsevier Science
- Year
- 2009
- Tongue
- English
- Weight
- 188 KB
- Volume
- 31
- Category
- Article
- ISSN
- 0387-7604
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We performed a clinical, biochemical, and genetic study in 16 patients from 11 families with adult-onset acid maltase deficiency. All patients were compound heterozygotes and carried the IVS1( --13T+G) transversion on one alkele; the second allele harbored either a deletion of a T at position 525 in
Nine patients with adult-onset acid maltase deficiency (Pompe's disease) were examined clinically and with computed tomography (CT). The CT scan showed early and severe involvement of the muscles of trunk and thighs, with selective sparing of the tensor fasciae latae, short head of biceps femoris, g