✦ LIBER ✦

Dihydropyrimidinase deficiency presenting in infancy with severe developmental delay

✍ Scribed by M. J. Henderson; K. Ward; H. A. Simmonds; J. A. Duley; P. M. Davies

Publisher: Springer
Year: 1993
Tongue: English
Weight: 148 KB
Volume: 16
Category: Article
ISSN: 0141-8955
DOI: 10.1007/bf00711685

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Isolated dihydroxyacetonephosphate acylt

Isolated dihydroxyacetonephosphate acyltransferase deficiency presenting with developmental delay

✍ P. T. Clayton; S. Eckhardt; J. Wilson; C. M. Hall; Y. Yousuf; R. J. A. Wanders; 📂 Article 📅 1994 🏛 Springer 🌐 English ⚖ 954 KB

Spinocerebellar ataxia type 2 (SCA2) pre

Spinocerebellar ataxia type 2 (SCA2) presenting with ophthalmoplegia and developmental delay in infancy

✍ Moretti, Paolo ;Blazo, Maria ;Garcia, Leonardo ;Armstrong, Dawna ;Lewis, Richard 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 136 KB

An 11-year-old boy was evaluated for progressive ataxia, cognitive deterioration, and ophthalmoplegia. The child initially presented with abnormal eye movements at the age of 2 months and was noted to have developmental delay at 6 months. At the age of 7 years, he developed ataxia and cognitive impa

5-Oxoprolinase deficiency associated wit

5-Oxoprolinase deficiency associated with severe psychomotor developmental delay, failure to thrive, microcephaly and microcytic anaemia

✍ E. Mayatepek; G. F. Hoffmann; A. Larsson; K. Becker; H. J. Bremer 📂 Article 📅 1995 🏛 Springer 🌐 English ⚖ 131 KB

Deficiency of 5-oxoprolinase in an 8-yea

Deficiency of 5-oxoprolinase in an 8-year-old with developmental delay

✍ F. P. Bernier; F. F. Snyder; D. R. McLeod 📂 Article 📅 1996 🏛 Springer 🌐 English ⚖ 159 KB

Pancreatic hypoplasia presenting with ne

Pancreatic hypoplasia presenting with neonatal diabetes mellitus in association with congenital heart defect and developmental delay

✍ M. Balasubramanian; J.P.H. Shield; C.L. Acerini; J. Walker; S. Ellard; M. Marcha 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 214 KB

Compound heterozygous deletion of NRXN1

Compound heterozygous deletion of NRXN1 causing severe developmental delay with early onset epilepsy in two sisters

✍ Victoria Harrison; Lyndsey Connell; Jesse Hayesmoore; Joanna McParland; Michael 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 391 KB 👁 2 views