CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy.

Autor: Berrier KL; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, North Carolina, USA., Kazi ZB; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, North Carolina, USA., Prater SN; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, North Carolina, USA., Bali DS; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, North Carolina, USA., Goldstein J; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, North Carolina, USA., Stefanescu MC; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, North Carolina, USA., Rehder CW; Department of Pathology, Duke University Medical Center, Durham, North Carolina, USA., Botha EG; Department of Human Genetics, Emory University, Atlanta, Georgia, USA., Ellaway C; Western Sydney Genetics Program, Children's Hospital at Westmead, Sydney, Australia., Bhattacharya K; Western Sydney Genetics Program, Children's Hospital at Westmead, Sydney, Australia., Tylki-Szymanska A; Department of Pediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland., Karabul N; Center for Pediatric and Adolescent Medicine, University Medical Center, Mainz, Germany., Rosenberg AS, Kishnani PS; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, North Carolina, USA.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2015 Nov; Vol. 17 (11), pp. 912-8. Date of Electronic Publication: 2015 Mar 05.

The emerging phenotype of long-term survivors with infantile Pompe disease.

Autor: Prater SN; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA., Banugaria SG, DeArmey SM, Botha EG, Stege EM, Case LE, Jones HN, Phornphutkul C, Wang RY, Young SP, Kishnani PS

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2012 Sep; Vol. 14 (9), pp. 800-10. Date of Electronic Publication: 2012 Apr 26.