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Volume 5 (2010) - April 2010

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Case Report   Open Access

A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): a case report

Mohammed Al-Owain, Sarar Mohamed, Namik Kaya, Ahmad Zagal, Gert Matthijs, Jaak Jaeken Orphanet Journal of Rare Diseases 2010, 5:7 (16 April 2010)

Abstract | Full text | PDF | PubMed

Case Report   Open Access

Hereditary renal adysplasia, pulmonary hypoplasia and Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a case report

Pedro Acién, Francisco Galán, Irene Manchón, Eva Ruiz, Maribel Acién, Luis A Alcaraz Orphanet Journal of Rare Diseases 2010, 5:6 (14 April 2010)

Abstract | Full text | PDF | PubMed

Review   Open Access Highly Accessed

Mucopolysaccharidosis VI

Vassili Valayannopoulos, Helen Nicely, Paul Harmatz, Sean Turbeville Orphanet Journal of Rare Diseases 2010, 5:5 (12 April 2010)

Abstract | Full text | PDF | PubMed | Cited on BioMed Central

Case Report   Open Access

Thrombocytopenia and splenomegaly: an unusual presentation of congenital hepatic fibrosis

Serena Poala, Gianni Bisogno, Raffaella Colombatti Orphanet Journal of Rare Diseases 2010, 5:4 (12 April 2010)

Abstract | Full text | PDF | PubMed


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