Clinical, biochemical and molecular characterization of prosaposin deficiency

Clinical Genetics

Volumn 90, Issue 3, 2016, Pages 220-229

  Motta, M ^a   Tatti, M ^b   Furlan, F ^c   Celato, A ^c   Di Fruscio, G ^d,e   Polo, G ^c   Manara, R ^c   Nigro, V ^d,e   Tartaglia, M ^a   Burlina, A ^c   Salvioli, R ^b  

^a BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^b ISTITUTO SUPERIORE DI SANITÀ   (Italy)

^c UNIVERSITY HOSPITAL OF PADOVA   (Italy)

^d SECOND UNIVERSITY OF NAPLES   (Italy)

^e TELETHON INSTITUTE OF GENETICS AND MEDICINE TIGEM   (Italy)

Author keywords

autophagy; brain magnetic resonance imaging; lysosphingolipids; prosaposin deficiency; saposins

Indexed keywords

GLOBOTRIAOSYLSPHINGOSINE; GLUCOSYLSPHINGOSINE; GLYCOLIPID; LYSOSPHINGOLIPID; PROSAPOSIN; SPHINGOLIPID; SPHINGOSINE; UNCLASSIFIED DRUG;

ARTICLE; AUTOPHAGOSOME; AUTOPHAGY; BIOCHEMISTRY; CLINICAL ARTICLE; CLINICAL FEATURE; FEMALE; FIBROBLAST; GENE MUTATION; GENETIC TRANSCRIPTION; HOMOZYGOTE; HUMAN; HUMAN CELL; INFANT; LIPID BLOOD LEVEL; LIQUID CHROMATOGRAPHY; LYSOSOME STORAGE DISEASE; MALE; MOLECULAR BIOLOGY; NEUROIMAGING; NEUROLOGIC DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; PROSAPOSIN DEFICIENCY; TANDEM MASS SPECTROMETRY;

EID: 84983394723     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12753     Document Type: Article

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