Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines

Molecular Genetics and Metabolism

Volumn 117, Issue 3, 2016, Pages 313-321

  Braverman, Nancy E ^a   Raymond, Gerald V ^b   Rizzo, William B ^c   Moser, Ann B ^d   Wilkinson, Mark E ^e   Stone, Edwin M ^e   Steinberg, Steven J ^f   Wangler, Michael F ^g   Rush, Eric T ^c   Hacia, Joseph G ^h   Bose, Mousumi ⁱ  

^a MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

^b UNIVERSITY OF MINNESOTA   (United States)

^c UNIVERSITY OF NEBRASKA MEDICAL CENTER   (United States)

^d KENNEDY KRIEGER INSTITUTE   (United States)

^e UNIVERSITY OF IOWA   (United States)

^f JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^g BAYLOR COLLEGE OF MEDICINE   (United States)

^h UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

ⁱ Global Foundation for Peroxisomal Disorders   (United States)

Author keywords

Peroxisome biogenesis disorders; PEX genes; Retinal dystrophy; Sensorineural hearing loss; Treatment guidelines; Very long chain fatty acids; Zellweger spectrum disorder

Indexed keywords

ADRENAL GLAND; BIOGENESIS; CLINICAL EVALUATION; CLINICAL FEATURE; FEEDING; GENETIC SCREENING; HEARING; KIDNEY; LIVER; NEUROLOGIC DISEASE; NEWBORN SCREENING; NUTRITION; PEROXISOME; PRACTICE GUIDELINE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; REVIEW; TOOTH; VISION; ZELLWEGER SYNDROME; ADULT; GENETICS; HEARING LOSS, SENSORINEURAL; HUMAN; MUTATION; PATHOPHYSIOLOGY; PEROXISOMAL DISORDERS; PERSONALIZED MEDICINE; PHENOTYPE; RETINAL DYSTROPHIES;

MEMBRANE PROTEIN; PHEX PROTEIN, HUMAN; PHOSPHATE REGULATING NEUTRAL ENDOPEPTIDASE;

ADULT; GENETIC TESTING; HEARING LOSS, SENSORINEURAL; HUMANS; MEMBRANE PROTEINS; MUTATION; PEROXISOMAL DISORDERS; PEROXISOMES; PHENOTYPE; PHEX PHOSPHATE REGULATING NEUTRAL ENDOPEPTIDASE; PRACTICE GUIDELINES AS TOPIC; PRECISION MEDICINE; RETINAL DYSTROPHIES; ZELLWEGER SYNDROME;

EID: 84959489863     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2015.12.009     Document Type: Review

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