Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect

By Kamp Jiddeke  

Journal of Inherited Metabolic Disease, Vol. 35, Iss. 1, 2012-01 ,pp. : 141-149

Springer Publishing Company

Access to resources Recommend Favorite

Severe X-linked chronic granulomatous disease in two unrelated females

By Chollet-Martin Sylvie   Lopez Anne   Gaud Catherine   Henry Dominique   Stos Bertrand   Benna Jamel   Chedevile Gaëlle   Gendrel Dominique   Gougerot-Pocidalo Marie-Anne   Grandchamp Bernard   Gérard Bénédicte  

European Journal of Pediatrics, Vol. 166, Iss. 2, 2007-02 ,pp. : 153-159

Springer Publishing Company

Access to resources Recommend Favorite

X-linked severe combined immunodeficiency (X-SCID) with high blood levels of immunoglobulins and Aspergillus pneumonia successfully treated with micafangin followed by unrelated cord blood stem cell transplantation

By Kobayashi Shinichi   Murayama Shizuko   Tatsuzawa Osamu   Koinuma Goro   Kawasaki Kazuteru   Kiyotani Chikako   Kumagai Masaaki  

European Journal of Pediatrics, Vol. 166, Iss. 3, 2007-03 ,pp. : 207-210

Springer Publishing Company

Access to resources Recommend Favorite

Treatment by oral creatine, L-arginine and L-glycine in six severely affected patients with creatine transporter defect

By Valayannopoulos Vassili  

Journal of Inherited Metabolic Disease, Vol. 35, Iss. 1, 2012-01 ,pp. : 151-157

Springer Publishing Company

Access to resources Recommend Favorite

Creatine transporter deficiency in two adult patients with static encephalopathy

By Sempere A.   Fons C.   Arias A.   Rodríguez-Pombo P.   Colomer R.   Merinero B.   Alcaide P.   Capdevila A.   Ribes A.   Artuch R.   Campistol J.  

Journal of Inherited Metabolic Disease, Vol. 32, Iss. 1, 2009-12 ,pp. : 91-96

Springer Publishing Company

Access to resources Recommend Favorite