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Multi-systemic involvement in NGLY1-related disorder caused by two novel mutations
Jennifer Heeley
,
Marwan Shinawi
Institute of Clinical and Translational Sciences
Division of Genetics and Genomic Medicine
Research output
:
Contribution to journal
›
Article
›
peer-review
46
Scopus citations
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Medicine & Life Sciences
Mutation
100%
Metabolic Bone Diseases
97%
Phenotype
80%
Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase
67%
Blepharitis
66%
Endoplasmic Reticulum-Associated Degradation
66%
Abnormal Reflexes
57%
RNA Splice Sites
55%
Microcephaly
54%
Lacrimal Apparatus
54%
Muscle Hypotonia
53%
Whole Exome Sequencing
53%
Strabismus
51%
Muscular Atrophy
51%
Dyskinesias
49%
Scoliosis
48%
Transaminases
46%
Constipation
46%
Liver
46%
Endoplasmic Reticulum
42%
Glycoproteins
38%
Exons
37%
Pathologic Constriction
35%
Seizures
34%
Lipids
29%
Biopsy
27%
Enzymes
24%
Growth
22%