Research Papers
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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 - 83. Epub 2007 Jun 7. |
| 02 | Arthrogryposis - Bio Med., July 1999 issue. |
| 03 | Neonatal Hyper lysinemia A Cause of Severe Birth Asphyxia, Paper submitted in IAP Mumbai conference, Oct. 1999, Pg. FP 1 10. |
| 04 | Non immune Hydrops Foetalis Bio Med., Dec. 1999, Pg. 128-132. |
| 05 | SIDS, A Composite of Doom Bio Med., Feb. 2000 issue Pg. 32-34. |
| 06 | Sudden Infant Death Syndrome Perinatology, 2000, Vol. 2 Number 4, Pg. 177-186. |
| 07 | Thyroid Function Tests in Sick Neonates Perinatology 2000, Vol. 2 Number 6, Pg. 265-274. |
| 08 | Inborn Errors of Metabolism in Critically ill Newborns Part 1 Perinatology 2001, Vol. 3, No.1: Pg. 13-24. |
| 09 | Inborn Errors of Metabolism in Critically ill Newborns Part II Perinatology 2001, Vol. 3 and No. 3: Pg. 113-121. |
| 10 | 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. |
| 11 | Neonatal Metabolic and Genetic Disorders – a book on Genetic and metabolic disorders for Pediatricians and Gynecologists; published in Jan. 2000. |
| 12 | Toxoplasmosis Perinatology Vol. 4 (2): 75-83. |
| 13 | Toxoplasmosis Perinatology Vol. 4 (3): 134-147. |
| 14 | Newborn Screening in India – Presented as a research Paper at National Conference of ISPAT at Pune, Jan. 2002. |
| 15 | Biotinidase deficiency screening in High risk newborn and pediatric population of India. Research paper accepted for presentation at International Conference of Newborn Screening, Italy, 25–29 June 2002. |
| 16 | Newborn Screening for Galactosemia – Thesis completed by M.Sc. Student under my supervision at our center. |
| 17 | Biochemical Parameters of Mental Retardation – Use of Ammonia as a screening procedure. Thesis completed by M.Sc. (Research) Student of Bombay University under my supervision. |
| 18 | V.L.C.A.D. deficiency – A. B. Jalan and B. Awasthi, Perinatology, Vol. 6 (4), July-Aug. 2004; Pg. 197-202. |
| 19 | Galactosemia, Journal of Genetics, Screening and Health, Vol 1 No. 2 June 2006: Pg. 33-44. |
| 20 | Biotinidase Deficiency – Urgent Need for Newborn Screening in India. Journal of Genetics, Screening and Health, Vol 1 No. 3 Nov 2006. |
| 21 | Fructose 1,6 Diphosphatase Deficiency. Journal of Genetics, Screening and Health, Vol 2 No. 2 Apr-May-June 2007. |
| 22 | Incidence of Preventable IEM in Indian Children with Mental Retardation. Journal of Genetics, Screening and Health, Vol 3 No. 1 Jan-Feb-Mar 2008. |
| 23 | Outcome 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. |