✦ LIBER ✦

A new patient with dicarboxylic aciduria suggestive of medium-chain acyl-CoA dehydrogenase deficiency presenting as Reye's syndrome

✍ Scribed by J. A. Del Valle; M. J. Garcia; B. Merinero; C. Pérez-Cerdá; F. Roman; A. Jimenez; M. Ugarte; M. Martínez-Pardo; C. Ludeña; C. Camarero; R. del Olmo; M. Duran; S. K. Wadman

Publisher: Springer
Year: 1984
Tongue: English
Weight: 327 KB
Volume: 7
Category: Article
ISSN: 0141-8955
DOI: 10.1007/bf01805804

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Rett syndrome in a patient with medium c

Rett syndrome in a patient with medium chain acyl-CoA dehydrogenase deficiency

✍ R. P. Beekman; N. Hofstee; J. A. M. Smeitink; B. T. Poll-The; M. Duran 📂 Article 📅 1994 🏛 Springer 🌐 English ⚖ 276 KB

A new case of short-chain acyl-CoA dehyd

A new case of short-chain acyl-CoA dehydrogenase deficiency with isolated ethylmalonic aciduria

✍ A. C. Sewell; J. Herwig; H. Böhles; P. Rinaldo; A. Bhala; D. E. Hale 📂 Article 📅 1993 🏛 Springer 🌐 English ⚖ 321 KB

Identification of phenylpropionylcarniti

Identification of phenylpropionylcarnitine, a new metabolite of phenylpropionic acid, in a patient with medium chain acyl-coa dehydrogenase deficiency

✍ R. Moore; D. S. Millington; D. Norwood; N. Kodo; P. Robinson; J. F. T. Glasgow 📂 Article 📅 1990 🏛 Springer 🌐 English ⚖ 362 KB

Interstitial deletion of 1p22.2p31.1 and

Interstitial deletion of 1p22.2p31.1 and medium-chain acyl-CoA dehydrogenase deficiency in a patient with global developmental delay

✍ Gustavo H.B. Maegawa; Nicola K. Poplawski; Brage Storstein Andresen; Simon E. Ol 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 139 KB 👁 2 views

## Abstract We report on a 6‐year‐old girl who presented at 6 months of age with seizures, delayed psychomotor development and mild facial dysmorphism. A small muscular ventricular septal defect was documented on echocardiogram and brain MRI showed a frontal brain anomaly. Urine organic acid analys

The diagnosis and treatment of a patient

The diagnosis and treatment of a patient with medium-chain acyl-CoA dehydrogenase deficiency: Overnight fasting does not result in the expected urinary meta10545te profile

✍ A. H. van Gennip; H. D. Bakker; M. Duran; L. J. van Oudheusden 📂 Article 📅 1986 🏛 Springer 🌐 English ⚖ 266 KB