Results 81 to 90 of about 2,160,111 (122)

Parents’ responses to their child’s diagnosis of Autism Spectrum Disorder (ASD)

, 2010
Although a significant amount of research has reported the level of parental satisfaction with the disclosure of a diagnosis, little has documented their emotional responses after the diagnosis, their perceptions of the future, and the potential impact ...
Evans, Amber
core   +1 more source

In vivo base editing rescues liver pathophysiology and peroxisome dysfunction in a mouse model of Zellweger spectrum disorder. [PDF]

Nat Biomed Eng
Gao XD, Presa M, Duby JE, Ryan J, Piec PA, Hsu A, Banskota S, Jiang AY, Chen L, Newby GA, Di Pietro E, Levy JM, Steele BH, Lecordier S, Qin F, Moser AB, Xie J, Gao G, Braverman NE, Zuberi AR, Hacia JG, Lutz CM, Liu DR.   +22 more
europepmc   +1 more source

Subacute Neuropathy Post-Liver Transplantation in Zellweger Spectrum Disorder: A Case Report. [PDF]

Am J Med Genet A
Gonzalez C, Cohen MJ, Hong J, Calame D, Marri K, Harpavat S, Wangler MF, Mysore K.   +7 more
europepmc   +1 more source

Two novel mutations of PEX6 in one Chinese Zellweger spectrum disorder and their clinical characteristics. [PDF]

Ann Transl Med, 2019
Yu HL, Shen Y, Sun YM, Zhang Y.
europepmc   +1 more source

Severe Zellweger spectrum disorder due to a novel missense variant in the PEX13 gene: A case report and the literature review. [PDF]

Mol Genet Genomic Med
Su L, Peng MZ, Chen XD, Wu S, Liu L.
europepmc   +1 more source

A newly identified mutation in the PEX26 gene is associated with a milder form of Zellweger spectrum disorder. [PDF]

Cold Spring Harb Mol Case Stud, 2019
Tanaka AJ, Okumoto K, Tamura S, Abe Y, Hirsch Y, Deng L, Ekstein J, Chung WK, Fujiki Y.   +8 more
europepmc   +1 more source

Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder. [PDF]

Am J Hum Genet, 2017
Falkenberg KD, Braverman NE, Moser AB, Steinberg SJ, Klouwer FCC, Schlüter A, Ruiz M, Pujol A, Engvall M, Naess K, van Spronsen F, Körver-Keularts I, Rubio-Gozalbo ME, Ferdinandusse S, Wanders RJA, Waterham HR.   +15 more
europepmc   +1 more source

Novel PEX3 Gene Mutations Resulting in a Moderate Zellweger Spectrum Disorder. [PDF]

JIMD Rep, 2017
Maxit C, Denzler I, Marchione D, Agosta G, Koster J, Wanders RJA, Ferdinandusse S, Waterham HR.   +7 more
europepmc   +1 more source

Reply: Low bone mineral density is a common feature of Zellweger spectrum disorders

Molecular Genetics and Metabolism Reports, 2016
Eric T. Rush, Jennifer L. Goodwin, Nancy E. Braverman, William B. Rizzo   +3 more
doaj   +1 more source

The Pex1-G844D mouse: a model for mild human Zellweger spectrum disorder. [PDF]

Mol Genet Metab, 2014
Hiebler S, Masuda T, Hacia JG, Moser AB, Faust PL, Liu A, Chowdhury N, Huang N, Lauer A, Bennett J, Watkins PA, Zack DJ, Braverman NE, Raymond GV, Steinberg SJ.   +14 more
europepmc   +1 more source