✦ LIBER ✦

Elsberg syndrome due to infarction of the conus medullaris associated with a prothrombin mutation

✍ Scribed by D. Wildgruber; Reinhard Kuntz; Pawel Kermer; Jan Bartel; Michael Fetter; Johannes Dichgans

Publisher: Springer
Year: 1999
Tongue: English
Weight: 108 KB
Volume: 246
Category: Article
ISSN: 0340-5354
DOI: 10.1007/s004150050394

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Elsberg syndrome due to infarction of th

Elsberg syndrome due to infarction of the conus medullaris associated with a prothrombin mutation

✍ D. Wildgruber; Reinhard Kuntz; Pawel Kermer; Jan Bartel; Michael Fetter; Johanne 📂 Article 📅 1999 🏛 Springer 🌐 English ⚖ 108 KB

Elsberg syndrome due to infarction of the

A review of the phenotypic variation due

A review of the phenotypic variation due to the Denys-Drash syndrome-associated germline WT1 mutation R362X

✍ Rosemary W. Heathcott; Ian M. Morison; Marie Claire Gubler; Robin Corbett; Antho 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 189 KB

The gene WT1 is required for the normal development and function of the urogenital tract. Constitutional mutations are associated with familial Wilms tumor and syndromes such as Denys-Drash syndrome (DDS) characterized by nephropathy, genital anomalies and often a predisposition to Wilms tumor. We r

An infant with cartilage-hair hypoplasia

An infant with cartilage-hair hypoplasia due to a novel homozygous mutation in the promoter region of theRMRPgene associated with chondrodysplasia and severe immunodeficiency

✍ N. Vatanavicharn; N. Visitsunthorn; T. Pho-iam; O. Jirapongsananuruk; P. Pacharn 📂 Article 📅 2010 🏛 Springer-Verlag 🌐 English ⚖ 259 KB

Azathioprine-induced severe pancytopenia

Azathioprine-induced severe pancytopenia due to a homozygous two-point mutation of the thiopurine methyltransferase gene in a patient with juvenile HLA-B27-associated spondylarthritis

✍ G. Leipold; E. Schütz; J. P. Haas; M. Oellerich 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 326 KB 👁 2 views

A nonsense mutation due to a single base

A nonsense mutation due to a single base insertion in the 3′-coding region of glycogen debranching enzyme gene associated with a severe phenotype in a patient with glycogen storage disease type IIIa

✍ Jianjun Shen; Yong Bao; Yuan-Tsong Chen 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 153 KB 👁 2 views

Glycogen storage disease type III (GSD-III) is an autosomal recessive disease resulting from deficient glycogen debranching enzyme (ODE) activity. A child with GDE deficient in both liver and muscle (GSD-IIIa) had recurrent hypoglycemia, seizures, severe cardiomegaly, and hepatomegaly and died at 4

Unilateral focal polymicrogyria in a pat

Unilateral focal polymicrogyria in a patient with classical Aarskog–Scott syndrome due to a novel missense mutation in an evolutionary conserved RhoGEF domain of the faciogenital dysplasia gene FGD1

✍ Armand Bottani; Alfredo Orrico; Lucia Galli; Olivier Karam; Charles-André Haengg 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 224 KB 👁 2 views