All individuals with variants in gene PSAP

37 entries on 1 page. Showing entries 1 - 37.
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00017866 - PubMed: Kretz 1990, PubMed: Rafi 1990 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M ? United States - - - - - PSAPD HPLC analysis of normal and saposin B-deficient lymphoblasts showed no saposin A, C, or D deficiency 1 2 Johan den Dunnen
00017867 - Wenger 1989, ASHG A13 - ? yes Macau - - - - - MLDB - 1 1 Johan den Dunnen
00034215 - PubMed: Zhang 1990 2-generation family, 1 affected, unaffected heterozygous carrier parents/sister ? yes United States - 22y - - - MLDB see paper 1 1 Johan den Dunnen
00038645 - {PMID: Shapiro 1979} - F yes Mexico - - - - - MLDB juvenile form 1 2 Mirella Filocamo
00038713 - {PMID: Shapiro 1979} - M yes Mexico - - - - - MLDB juvenile form 1 2 Mirella Filocamo
00038714 - {PMID:Holtschmidt 1991} - M yes - Arabic - - - - MLDB juvenile form 1 1 Mirella Filocamo
00038715 - {PMID:Hahn 1982} - F yes Canada - 22y - - - MLDB adult form 1 1 Mirella Filocamo
00038716 - {PMID:Regis 1999} - M yes Italy - - - - - MLDB late infantile form 1 1 Mirella Filocamo
00038717 - {PMID:Wrobe 2000} - F no Spain - - - - - MLDB late infantile form 1 2 Mirella Filocamo
00038718 - {PMID:Wrobe 2000} - F no Spain - - - - - MLDB late infantile form 1 2 Mirella Filocamo
00038725 - {PMID:Deconinck 2008} - F ? Italy - - - - - MLDB Late infantile form 2 1 Mirella Filocamo
00038726 - {PMID:Henseler 1996} - M yes Turkey - - - - - MLDB juvenile form 1 1 Mirella Filocamo
00038727 - PubMed: Kuchar 2009 2-generation family, unaffected heterozygous carrier parents M ? - - - - - - MLDB late infantile form 2 1 Mirella Filocamo
00038728 - {PMID:Grossi 2008} - M no Italy - - - - - MLDB late infantile form 1 1 Mirella Filocamo
00038735 - PubMed: Kuchar 2009 2-generation family, unaffected heterozygous carrier parents; parents first cousins M yes (Germany) - - - - - MLDB see paper, extensive description 1 1 Johan den Dunnen
00038785 - {PMID:Grossi 2008} - M no Italy - - - - - MLDB late infantile form 1 1 Mirella Filocamo
00038786 - {PMID:Grossi 2008} - F no Italy - - - - - MLDB late infantile form 1 1 Mirella Filocamo
00038787 - {PMID:Grossi 2008} - F no Italy - - - - - MLDB late infantile form 1 1 Mirella Filocamo
00038788 - {PMID:Al-Hassan 2009} - ? yes Saudi Arabia - - - - - MLDB juvenile form 1 2 Mirella Filocamo
00038789 - {PMID:Al-Hassan 2009} - ? yes Saudi Arabia - - - - - MLDB juvenile form 1 2 Mirella Filocamo
00038790 - {PMID:Al-Hassan 2009} - ? yes Saudi Arabia - - - - - MLDB late infantile form 1 3 Mirella Filocamo
00038791 - {PMID:Al-Hassan 2009} - ? yes Saudi Arabia - - - - - MLDB late infantile form 1 3 Mirella Filocamo
00038792 - {PMID:Al-Hassan 2009} - ? yes Saudi Arabia - - - - - MLDB pre-symptomatic 1 3 Mirella Filocamo
00038802 - {PMID:Al-Hassan 2009} - ? yes Saudi Arabia - - - - - MLDB late infantile form 1 3 Mirella Filocamo
00038803 - {PMID:Al-Hassan 2009} - ? yes Saudi Arabia - - - - - MLDB late infantile form 1 3 Mirella Filocamo
00038804 - {PMID:Al-Hassan 2009} - ? yes Saudi Arabia - - - - - MLDB pre-symptomatic 1 3 Mirella Filocamo
00038805 - {PMID:Al-Hassan 2009} - ? yes Saudi Arabia - - - - - MLDB late infantile form 1 1 Mirella Filocamo
00038806 - {PMID:Siri 2014} - M yes Morocco - 04y - - - MLDB late infantile form 1 2 Mirella Filocamo
00038807 - {PMID:Siri 2014} - M yes Morocco - - - - - MLDB late infantile form 1 2 Mirella Filocamo
00038808 - - - F no Italy - - - - - MLDB late infantile form 1 1 Mirella Filocamo
00080895 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - PSAPD Combined SAP deficiency (OMIM:611721) 1 1 Daniel Trujillano
00080920 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - PSAPD Combined SAP deficiency (OMIM:611721) 1 1 Daniel Trujillano
00173735 - - - M no Slovakia (Slovak Republic) white >04y - - - MLDB - 2 1 Martina Skopkova
00335515 - - - ? yes Saudi Arabia - - - - - MLDB - 1 1 Muhammad Umair
00374819 S-2289 PubMed: Ganapathy 2019 - - - India - - - - - ? - 1 1 Johan den Dunnen
00374820 S-4683 PubMed: Ganapathy 2019 - - - India - - - - - ? - 1 1 Johan den Dunnen
00377058 - - - F yes China Chinese 03y02m - yes none MLDB - 1 2 Shuyuan Yan
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