Diagnosis, treatment, follow-up and gene mutation analysis in four Chinese children with biotinidase deficiency

By Ye J.   Wang T.   Han L.   Qiu W.   Zhang H.   Zhang Y.   Gao X.   Wang Y.   Gu X.  

Journal of Inherited Metabolic Disease, Vol. 32, Iss. 1, 2009-12 ,pp. : 295-302

Springer Publishing Company

Access to resources Recommend Favorite

Successful pregnancy in a treated patient with biotinidase deficiency

By Hendriksz C.   Preece M.   Chakrapani A.  

Journal of Inherited Metabolic Disease, Vol. 28, Iss. 5, 2005-09 ,pp. : 791-792

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

Acute metabolic encephalopathy: An introduction

By Leonard J.  

Journal of Inherited Metabolic Disease, Vol. 28, Iss. 3, 2005-05 ,pp. : 403-406

Springer Publishing Company

Access to resources Recommend Favorite

BIOTINIDASE DEFICIENCY AND JUVENILE MYELOMONOCYTIC LEUKEMIA IN A TURKISH INFANT OF CONSANGUINEOUS PARENTS

By Yetgin Sevgi   Aytac Selin   Kalkanoglu Serap   Coskun Turgay   Ortmann Christina   Kratz Christian   Niemeyer Charlotte  

Pediatric Hematology and Oncology, Vol. 24, Iss. 6, 2007-07 ,pp. : 453-455

Informa Healthcare

Access to resources Recommend Favorite