✦ LIBER ✦

Minor facial anomalies in combined methylmalonic aciduria and homocystinuria due to a defect in cobalamin metabolism

✍ Scribed by R. Cerone; M. C. Schiaffino; U. Caruso; S. Lupino; R. Gatti

Book ID: 110225518
Publisher: Springer
Year: 1999
Tongue: English
Weight: 54 KB
Volume: 22
Category: Article
ISSN: 0141-8955
DOI: 10.1023/a:1005521702298

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Facial anomalies in combined methylmalon

Facial anomalies in combined methylmalonic aciduria and homocystinuria

✍ Cerone, Roberto ;Schiaffino, Maria Christina ;Caruso, Ubaldo ;Gatti, Rosanna 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 39 KB 👁 2 views

Creatine metabolism in combined methylma

Creatine metabolism in combined methylmalonic aciduria and homocystinuria

✍ Olaf A. Bodamer; Trilochan Sahoo; Arthur L. Beaudet; William E. O'Brien; Teodoro 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 78 KB 👁 2 views

Abnormal cobalamin metabolism in a megal

Abnormal cobalamin metabolism in a megaloblastic child with homocystinuria, cystathioninuria and methylmalonic aciduria

✍ J. C. Linnell; B. Miranda; H. R. Bhatt; S. B. Dowton; H. L. Levy 📂 Article 📅 1983 🏛 Springer 🌐 English ⚖ 264 KB

Clinical heterogeneity in cobalamin C va

Clinical heterogeneity in cobalamin C variant of combined homocystinuria and methylmalonic aciduria

✍ Grant A. Mitchell; David Watkins; Serge B. Melançon; David S. Rosenblatt; Guy Ge 📂 Article 📅 1986 🏛 Elsevier Science 🌐 English ⚖ 919 KB

Methylmalonic aciduria due to a new defe

Methylmalonic aciduria due to a new defect in adenosylcobalamin accumulation by cells

✍ Bernard A. Cooper; David S. Rosenblatt; David Watkins 📂 Article 📅 1990 🏛 John Wiley and Sons 🌐 English ⚖ 517 KB

## Abstract A child with methylmalonic aciduria due to failure to accumulate adocbl in mitochondria has a phenotype similar to cblA disease. Deficient utilization of labeled propionate by his fibroblasts is corrected by their fusion with those from cblA patients, indicating that he belongs to a dif