𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Prenatal and postnatal diagnosis of menkes disease, an inherited disorder of copper metabolism

✍ Scribed by T. Tønnesen; N. Horn

Publisher
Springer
Year
1989
Tongue
English
Weight
520 KB
Volume
12
Category
Article
ISSN
0141-8955

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Prenatal diagnosis of Menkes disease
Prenatal diagnosis of Menkes disease
✍ Stephen G. Kaler; Zeynep Tümer 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 42 KB 👁 2 views

About 90-95 per cent of the patients have a severe clinical course leading to death in early childhood. ATP7A mutations associated with MD show great variety, from cytogenetic abnormalities to partial gene deletions to single base-pair changes. As a lethal X-linked trait, an estimated one-third of n

Molecular mechanisms of copper metabolis
Molecular mechanisms of copper metabolism and the role of the Menkes disease protein
✍ Mark D. Harrison; Charles T. Dameron 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 480 KB 👁 1 views

Menkes disease is an X-linked, recessive disorder of copper metabolism that occurs in approximately 1 in 200,000 live births. The condition is characterized by skeletal abnormalities, severe mental retardation, neurologic degeneration, and patient mortality in early childhood. The symptoms of Menkes

Microcytic anemia with iron malabsorptio
Microcytic anemia with iron malabsorption: An inherited disorder of iron metabolism
✍ Hartman, Kip R.; Barker, James A. 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 601 KB

Two siblings were identified with severe hypoproliferative mlcrocytlc anemia and Iron malabsorption, In the absence of any gastrointestinal disorder or blood loss. These children had severe mlcrocytosls (MCV 48 fl, hemoglobin 7.5 gldl) with decreased serum iron, elevated serum TIBC, and decreased se