Related content

Neonatal Hypercalcemia due to a Homozygous Mutation in the Calcium-Sensing Receptor: Failure of Cinacalcet

By  

Neonatology, Vol. 104, Iss. 2, 2013-06 ,pp. : 104-108

Karger

Access to resources Recommend Favorite

Tumour necrosis factor receptor-associated periodic syndrome with a novel mutation in the TNFRSF1A gene in a Japanese family

By Kusuhara Koichi   Nomura Akihiko   Nakao Futoshi   Hara Toshiro  

European Journal of Pediatrics, Vol. 163, Iss. 1, 2004-01 ,pp. : 30-32

Springer Publishing Company

Access to resources Recommend Favorite

Eculizumab therapy for atypical haemolytic uraemic syndrome due to a gain-of-function mutation of complement factor B

By Gilbert Rodney   Fowler Darren   Angus Elizabeth   Hardy Stephen   Stanley Louise   Goodship Timothy  

Pediatric Nephrology, Vol. 28, Iss. 8, 2013-08 ,pp. : 1315-1318

Springer Publishing Company

Access to resources Recommend Favorite

Glycine N-methyltransferase deficiency: A new patient with a novel mutation

By Augoustides-Savvopoulou P.   Luka Z.   Karyda S.   Stabler S. P.   Allen R. H.   Patsiaoura K.   Wagner C.   Mudd S. H.  

Journal of Inherited Metabolic Disease, Vol. 26, Iss. 8, 2003-01 ,pp. : 745-759

Springer Publishing Company

Access to resources Recommend Favorite

A NONSENSE PORCN MUTATION IN SEVERE FOCAL DERMAL HYPOPLASIA WITH NATAL TEETH

By Dias Cristina   Basto Jorge   Pinho Odilia   Barbêdo Carla   Mártins Marcia   Bornholdt Dorothea   Fortuna Ana   Grzeschik Karl-Heinz   Lima Margarida  

Fetal and Pediatric Pathology, Vol. 29, Iss. 5, 2010-08 ,pp. : 305-313

Informa Healthcare

Access to resources Recommend Favorite