Navi Mumbai Institute of Research in Mental & Neurological Handicap

Research Papers

Publications and Research Papers
No. Publication / Research Paper
01Manifestation 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.
02Arthrogryposis - Bio Med., July 1999 issue.
03Neonatal Hyper lysinemia A Cause of Severe Birth Asphyxia, Paper submitted in IAP Mumbai conference, Oct. 1999, Pg. FP 1 10.
04Non immune Hydrops Foetalis Bio Med., Dec. 1999, Pg. 128-132.
05SIDS, A Composite of Doom Bio Med., Feb. 2000 issue Pg. 32-34.
06Sudden Infant Death Syndrome Perinatology, 2000, Vol. 2 Number 4, Pg. 177-186.
07Thyroid Function Tests in Sick Neonates Perinatology 2000, Vol. 2 Number 6, Pg. 265-274.
08Inborn Errors of Metabolism in Critically ill Newborns Part 1 Perinatology 2001, Vol. 3, No.1: Pg. 13-24.
09Inborn Errors of Metabolism in Critically ill Newborns Part II Perinatology 2001, Vol. 3 and No. 3: Pg. 113-121.
103 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.
11Neonatal Metabolic and Genetic Disorders – a book on Genetic and metabolic disorders for Pediatricians and Gynecologists; published in Jan. 2000.
12Toxoplasmosis Perinatology Vol. 4 (2): 75-83.
13Toxoplasmosis Perinatology Vol. 4 (3): 134-147.
14Newborn Screening in India – Presented as a research Paper at National Conference of ISPAT at Pune, Jan. 2002.
15Biotinidase deficiency screening in High risk newborn and pediatric population of India. Research paper accepted for presentation at International Conference of Newborn Screening, Italy, 25–29 June 2002.
16Newborn Screening for Galactosemia – Thesis completed by M.Sc. Student under my supervision at our center.
17Biochemical Parameters of Mental Retardation – Use of Ammonia as a screening procedure. Thesis completed by M.Sc. (Research) Student of Bombay University under my supervision.
18V.L.C.A.D. deficiency – A. B. Jalan and B. Awasthi, Perinatology, Vol. 6 (4), July-Aug. 2004; Pg. 197-202.
19Galactosemia, Journal of Genetics, Screening and Health, Vol 1 No. 2 June 2006: Pg. 33-44.
20Biotinidase Deficiency – Urgent Need for Newborn Screening in India. Journal of Genetics, Screening and Health, Vol 1 No. 3 Nov 2006.
21Fructose 1,6 Diphosphatase Deficiency. Journal of Genetics, Screening and Health, Vol 2 No. 2 Apr-May-June 2007.
22Incidence of Preventable IEM in Indian Children with Mental Retardation. Journal of Genetics, Screening and Health, Vol 3 No. 1 Jan-Feb-Mar 2008.
23Outcome and Management of Citrullinemia in Indian Society. Journal of Genetics, Screening and Health, Vol. 3 No. 2 Oct-Dec 2008; Pg. 22-32.
Co-Author Publications
1. 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.