{"id":737,"date":"2025-11-26T05:47:34","date_gmt":"2025-11-26T05:47:34","guid":{"rendered":"https:\/\/weldchrome.com\/metabolicerrors.com\/?page_id=737"},"modified":"2025-11-27T08:59:26","modified_gmt":"2025-11-27T08:59:26","slug":"research-papers","status":"publish","type":"page","link":"https:\/\/web1st.in\/metabolicerrors.com\/research-papers\/","title":{"rendered":"Research Papers"},"content":{"rendered":"<style>.elementor-737 .elementor-element.elementor-element-5d973faa:not(.elementor-motion-effects-element-type-background), .elementor-737 .elementor-element.elementor-element-5d973faa > .elementor-motion-effects-container > .elementor-motion-effects-layer{background-color:#E2F0EE;}.elementor-737 .elementor-element.elementor-element-5d973faa > .elementor-background-overlay{background-image:url(\"https:\/\/web1st.in\/metabolicerrors.com\/wp-content\/uploads\/2025\/11\/Bg-hero-page.png\");background-position:bottom 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underline;\r\n}\/* End custom CSS *\/<\/style>\t\t<div data-elementor-type=\"wp-page\" data-elementor-id=\"737\" class=\"elementor elementor-737\" data-elementor-post-type=\"page\">\n\t\t\t\t\t\t<section class=\"elementor-section elementor-top-section elementor-element elementor-element-5d973faa elementor-section-full_width elementor-section-height-default elementor-section-height-default\" data-id=\"5d973faa\" data-element_type=\"section\" data-e-type=\"section\" data-settings=\"{&quot;background_background&quot;:&quot;classic&quot;}\">\n\t\t\t\t\t\t\t<div class=\"elementor-background-overlay\"><\/div>\n\t\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-no\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-100 elementor-top-column elementor-element elementor-element-30c70b98\" data-id=\"30c70b98\" data-element_type=\"column\" data-e-type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-389ee89d elementor-icon-list--layout-inline elementor-widget__width-auto elementor-list-item-link-full_width elementor-widget elementor-widget-icon-list\" data-id=\"389ee89d\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"icon-list.default\">\n\t\t\t\t\t\t\t<ul class=\"elementor-icon-list-items elementor-inline-items\">\n\t\t\t\t\t\t\t<li class=\"elementor-icon-list-item elementor-inline-item\">\n\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-icon-list-text\">Home<\/span>\n\t\t\t\t\t\t\t\t\t<\/li>\n\t\t\t\t\t\t<\/ul>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-4c912ca4 elementor-icon-list--layout-inline elementor-widget__width-auto elementor-list-item-link-full_width elementor-widget elementor-widget-icon-list\" data-id=\"4c912ca4\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"icon-list.default\">\n\t\t\t\t\t\t\t<ul class=\"elementor-icon-list-items elementor-inline-items\">\n\t\t\t\t\t\t\t<li class=\"elementor-icon-list-item elementor-inline-item\">\n\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-icon-list-icon\">\n\t\t\t\t\t\t\t<svg aria-hidden=\"true\" class=\"e-font-icon-svg e-fas-chevron-right\" viewBox=\"0 0 320 512\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\"><path d=\"M285.476 272.971L91.132 467.314c-9.373 9.373-24.569 9.373-33.941 0l-22.667-22.667c-9.357-9.357-9.375-24.522-.04-33.901L188.505 256 34.484 101.255c-9.335-9.379-9.317-24.544.04-33.901l22.667-22.667c9.373-9.373 24.569-9.373 33.941 0L285.475 239.03c9.373 9.372 9.373 24.568.001 33.941z\"><\/path><\/svg>\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-icon-list-text\"><\/span>\n\t\t\t\t\t\t\t\t\t<\/li>\n\t\t\t\t\t\t<\/ul>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t<div class=\"elementor-element elementor-element-51deafb e-flex e-con-boxed e-con e-parent\" data-id=\"51deafb\" data-element_type=\"container\" data-e-type=\"container\">\n\t\t\t\t\t<div class=\"e-con-inner\">\n\t\t\t\t<div class=\"elementor-element elementor-element-d87a17c elementor-widget elementor-widget-html\" data-id=\"d87a17c\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"html.default\">\n\t\t\t\t\t<div class=\"page-title-bar\">\r\n  Publications and Research Papers\r\n<\/div>\r\n\r\n<div class=\"pdf-table-container\">\r\n  <table class=\"pdf-table\">\r\n    <thead>\r\n      <tr>\r\n        <th>No.<\/th>\r\n        <th>Publication \/ Research Paper<\/th>\r\n      <\/tr>\r\n    <\/thead>\r\n\r\n    <tbody>\r\n\r\n      <tr><td>01<\/td><td>Manifestation of Hawkinsinuria in a patient compound heterozygous for Hawkinsinuria and Tyrosinemia III, Mol Genet Metab. 2007 Aug; 91 (4) : 379 - 83. Epub 2007 Jun 7.<\/td><\/tr>\r\n\r\n      <tr><td>02<\/td><td>Arthrogryposis - Bio Med., July 1999 issue.<\/td><\/tr>\r\n\r\n      <tr><td>03<\/td><td>Neonatal Hyper lysinemia A Cause of Severe Birth Asphyxia, Paper submitted in IAP Mumbai conference, Oct. 1999, Pg. FP 1 10.<\/td><\/tr>\r\n\r\n      <tr><td>04<\/td><td>Non immune Hydrops Foetalis Bio Med., Dec. 1999, Pg. 128-132.<\/td><\/tr>\r\n\r\n      <tr><td>05<\/td><td>SIDS, A Composite of Doom Bio Med., Feb. 2000 issue Pg. 32-34.<\/td><\/tr>\r\n\r\n      <tr><td>06<\/td><td>Sudden Infant Death Syndrome Perinatology, 2000, Vol. 2 Number 4, Pg. 177-186.<\/td><\/tr>\r\n\r\n      <tr><td>07<\/td><td>Thyroid Function Tests in Sick Neonates Perinatology 2000, Vol. 2 Number 6, Pg. 265-274.<\/td><\/tr>\r\n\r\n      <tr><td>08<\/td><td>Inborn Errors of Metabolism in Critically ill Newborns Part 1 Perinatology 2001, Vol. 3, No.1: Pg. 13-24.<\/td><\/tr>\r\n\r\n      <tr><td>09<\/td><td>Inborn Errors of Metabolism in Critically ill Newborns Part II Perinatology 2001, Vol. 3 and No. 3: Pg. 113-121.<\/td><\/tr>\r\n\r\n      <tr><td>10<\/td><td>3 Hydroxy 3 Methylglutaric Aciduria (HMG Co A Lyase deficiency) Quarterly journal of Mumbai IAP Branch Impression Vol.1 Issue No.2, July 2001; Page 16, 23.<\/td><\/tr>\r\n\r\n      <tr><td>11<\/td><td>Neonatal Metabolic and Genetic Disorders \u2013 a book on Genetic and metabolic disorders for Pediatricians and Gynecologists; published in Jan. 2000.<\/td><\/tr>\r\n\r\n      <tr><td>12<\/td><td>Toxoplasmosis Perinatology Vol. 4 (2): 75-83.<\/td><\/tr>\r\n\r\n      <tr><td>13<\/td><td>Toxoplasmosis Perinatology Vol. 4 (3): 134-147.<\/td><\/tr>\r\n\r\n      <tr><td>14<\/td><td>Newborn Screening in India \u2013 Presented as a research Paper at National Conference of ISPAT at Pune, Jan. 2002.<\/td><\/tr>\r\n\r\n      <tr><td>15<\/td><td>Biotinidase deficiency screening in High risk newborn and pediatric population of India. Research paper accepted for presentation at International Conference of Newborn Screening, Italy, 25\u201329 June 2002.<\/td><\/tr>\r\n\r\n      <tr><td>16<\/td><td>Newborn Screening for Galactosemia \u2013 Thesis completed by M.Sc. Student under my supervision at our center.<\/td><\/tr>\r\n\r\n      <tr><td>17<\/td><td>Biochemical Parameters of Mental Retardation \u2013 Use of Ammonia as a screening procedure. Thesis completed by M.Sc. (Research) Student of Bombay University under my supervision.<\/td><\/tr>\r\n\r\n      <tr><td>18<\/td><td>V.L.C.A.D. deficiency \u2013 A. B. Jalan and B. Awasthi, Perinatology, Vol. 6 (4), July-Aug. 2004; Pg. 197-202.<\/td><\/tr>\r\n\r\n      <tr><td>19<\/td><td>Galactosemia, Journal of Genetics, Screening and Health, Vol 1 No. 2 June 2006: Pg. 33-44.<\/td><\/tr>\r\n\r\n      <tr><td>20<\/td><td>Biotinidase Deficiency \u2013 Urgent Need for Newborn Screening in India. Journal of Genetics, Screening and Health, Vol 1 No. 3 Nov 2006.<\/td><\/tr>\r\n\r\n      <tr><td>21<\/td><td>Fructose 1,6 Diphosphatase Deficiency. Journal of Genetics, Screening and Health, Vol 2 No. 2 Apr-May-June 2007.<\/td><\/tr>\r\n\r\n      <tr><td>22<\/td><td>Incidence of Preventable IEM in Indian Children with Mental Retardation. Journal of Genetics, Screening and Health, Vol 3 No. 1 Jan-Feb-Mar 2008.<\/td><\/tr>\r\n\r\n      <tr><td>23<\/td><td>Outcome and Management of Citrullinemia in Indian Society. Journal of Genetics, Screening and Health, Vol. 3 No. 2 Oct-Dec 2008; Pg. 22-32.<\/td><\/tr>\r\n\r\n      <!-- CO-AUTHOR SECTION -->\r\n      <tr class=\"pdf-section\"><td colspan=\"2\">Co-Author Publications<\/td><\/tr>\r\n\r\n      <tr>\r\n        <td>1.<\/td>\r\n        <td>\r\n          Monique Van Scherpenzeel, Sharita Timal, Anil Jalan et al., Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency, doi:10.1093\/brain\/awu019 Brain 2014: 1-9.\r\n        <\/td>\r\n      <\/tr>\r\n\r\n    <\/tbody>\r\n  <\/table>\r\n<\/div>\r\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t","protected":false},"excerpt":{"rendered":"<p>Home Publications and Research Papers No. Publication \/ Research Paper 01 Manifestation of Hawkinsinuria in a patient compound heterozygous for Hawkinsinuria and Tyrosinemia III, Mol Genet Metab. 2007 Aug; 91 (4) : 379 &#8211; 83. Epub 2007 Jun 7. 02 Arthrogryposis &#8211; Bio Med., July 1999 issue. 03 Neonatal Hyper lysinemia A Cause of Severe [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"footnotes":""},"class_list":["post-737","page","type-page","status-publish","hentry"],"_links":{"self":[{"href":"https:\/\/web1st.in\/metabolicerrors.com\/wp-json\/wp\/v2\/pages\/737","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/web1st.in\/metabolicerrors.com\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/web1st.in\/metabolicerrors.com\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/web1st.in\/metabolicerrors.com\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/web1st.in\/metabolicerrors.com\/wp-json\/wp\/v2\/comments?post=737"}],"version-history":[{"count":7,"href":"https:\/\/web1st.in\/metabolicerrors.com\/wp-json\/wp\/v2\/pages\/737\/revisions"}],"predecessor-version":[{"id":1251,"href":"https:\/\/web1st.in\/metabolicerrors.com\/wp-json\/wp\/v2\/pages\/737\/revisions\/1251"}],"wp:attachment":[{"href":"https:\/\/web1st.in\/metabolicerrors.com\/wp-json\/wp\/v2\/media?parent=737"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}