Gaucher disease in six Filipino children: a case series / (Record no. 2972)

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fixed length control field 01375nam a22002657a 4500
003 - CONTROL NUMBER IDENTIFIER
control field DOH
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20210219104454.0
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245 00 - TITLE STATEMENT
Title Gaucher disease in six Filipino children: a case series /
Statement of responsibility, etc. Mary Anne D. Chiong [and three others]
520 3# - SUMMARY, ETC.
Summary, etc. Six Filipino children with Gaucher disease are presented. All patients manifested marked hepatosplenomegaly, hematologic and skeletal abnormalities. The diagnosis was confirmed through bone marrow aspiration by demonstration of the characteristic ‘Gaucher cells’ and by leukocyte enzyme assay indicating deficient acid beta-glucosidase. Mutation analysis of the GBA gene was done in one patient. Two patients are receiving enzyme replacement therapy.
580 ## - LINKING ENTRY COMPLEXITY NOTE
Linking entry complexity note in: Acta Medica Philippina, 2008 vol 42 (2) pages: 43-47
650 #2 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Gaucher Disease
650 #2 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Glucosylceramidase
650 #2 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Glucosylceramides
650 #2 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Enzyme Replacement Therapy
653 ## - INDEX TERM--UNCONTROLLED
Uncontrolled term Hepatosplenomegaly
653 ## - INDEX TERM--UNCONTROLLED
Uncontrolled term Erlenmeyer Flask Deformity
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Chiong, Mary Anne D.
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Estrada, Sylvia C.
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Cutiongco-de la Paz, Eva Maria C.
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Yaplito-Lee, Joy
856 ## - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://actamedicaphilippina.upm.edu.ph/index.php/acta/article/view/2404/1726">https://actamedicaphilippina.upm.edu.ph/index.php/acta/article/view/2404/1726</a>
942 ## - ADDED ENTRY ELEMENTS (KOHA)
Koha item type Journal Article
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-- 2972
-- 2972
Holdings
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    National Library of Medicine     DOH Central Library DOH Central Library Electronic Resource Section 02/19/2021   J000067 D0001J000067 02/19/2021 02/19/2021 Journal Article