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Items: 1 to 50 of 98

1.

Clinical and Molecular Disease Spectrum and Outcomes in Patients with Infantile-Onset Pompe Disease.

Gupta N, Kazi ZB, Nampoothiri S, Jagdeesh S, Kabra M, Puri RD, Muranjan M, Kalaivani M, Rehder C, Bali D, Verma IC, Kishnani PS.

J Pediatr. 2020 Jan;216:44-50.e5. doi: 10.1016/j.jpeds.2019.08.058. Epub 2019 Oct 9.

PMID:
31606152
2.

Beta-thalassemia major complicated by intracranial hemorrhage and critical illness polyneuropathy.

Sanju S, Tullu MS, Karande S, Muranjan MN, Parekh P.

J Postgrad Med. 2019 Jul-Sep;65(3):171-176. doi: 10.4103/jpgm.JPGM_127_19.

3.

Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation.

Sheth J, Bhavsar R, Mistri M, Pancholi D, Bavdekar A, Dalal A, Ranganath P, Girisha KM, Shukla A, Phadke S, Puri R, Panigrahi I, Kaur A, Muranjan M, Goyal M, Ramadevi R, Shah R, Nampoothiri S, Danda S, Datar C, Kapoor S, Bhatwadekar S, Sheth F.

BMC Med Genet. 2019 Feb 14;20(1):31. doi: 10.1186/s12881-019-0759-1.

4.

The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function.

Girisha KM, von Elsner L, Neethukrishna K, Muranjan M, Shukla A, Bhavani GS, Nishimura G, Kutsche K, Mortier G.

Hum Mutat. 2019 Mar;40(3):299-309. doi: 10.1002/humu.23693. Epub 2018 Dec 21.

PMID:
30488656
5.

Managing pulmonary embolism secondary to suppurative deep vein thrombophlebitis due to community-acquired Staphylococcus aureus in a resource-poor setting.

Grewal M, Gupta S, Muranjan M, Karande S.

J Postgrad Med. 2018 Jul-Sep;64(3):164-169. doi: 10.4103/jpgm.JPGM_548_17.

6.

Enzyme replacement therapy in India: Lessons and insights.

Muranjan M, Karande S.

J Postgrad Med. 2018 Oct-Dec;64(4):195-199. doi: 10.4103/jpgm.JPGM_41_18. No abstract available.

7.

Diagnosis and Management of Gaucher Disease in India - Consensus Guidelines of the Gaucher Disease Task Force of the Society for Indian Academy of Medical Genetics and the Indian Academy of Pediatrics.

Puri RD, Kapoor S, Kishnani PS, Dalal A, Gupta N, Muranjan M, Phadke SR, Sachdeva A, Verma IC, Mistry PK; Gaucher Disease Task Force.

Indian Pediatr. 2018 Feb 15;55(2):143-153.

8.

Childhood cerebral X-linked adrenoleukodystrophy with atypical neuroimaging abnormalities and a novel mutation.

Muranjan M, Karande S, Sankhe S, Eichler S.

J Postgrad Med. 2018 Jan-Mar;64(1):59-63. doi: 10.4103/jpgm.JPGM_349_17.

9.

p.Arg69Trp in RNASEH2C is a founder variant in three Indian families with Aicardi-Goutières syndrome.

Hebbar M, Kanthi A, Shrikiran A, Patil S, Muranjan M, Francis F, Bhat B V, Girisha KM, Shukla A.

Am J Med Genet A. 2018 Jan;176(1):156-160. doi: 10.1002/ajmg.a.38522. Epub 2017 Nov 17.

PMID:
29150899
10.

Precursor B-cell acute lymphoblastic leukemia: An unusual cause of bilateral nephromegaly in an infant.

Ramadoss D, Karande S, Muranjan M, Wagle P.

J Postgrad Med. 2017 Oct-Dec;63(4):271-272. doi: 10.4103/jpgm.JPGM_231_17. No abstract available.

11.

Rare disease heralded by pulmonary manifestations: Avoiding pitfalls of an "asthma" label.

Bajaj S, Muranjan M, Karande S, Prabhat D.

J Postgrad Med. 2017 Apr-Jun;63(2):122-127. doi: 10.4103/0022-3859.201416.

12.

Pulmonary manifestations in Niemann-Pick type C disease with mutations in NPC2 gene: case report and review of literature.

Sheth J, Joseph JJ, Shah K, Muranjan M, Mistri M, Sheth F.

BMC Med Genet. 2017 Jan 17;18(1):5. doi: 10.1186/s12881-017-0367-x. Review.

13.

Acute Paraparesis Due to Lumbosacral Radiculopathy With Concomitant Meningitis: Unusual Presentation of Scrub Typhus.

Muranjan M, Karande S.

Pediatr Infect Dis J. 2016 Nov;35(11):1279-1280. No abstract available.

PMID:
27753778
14.

Outcome of Gaucher Disease in India: Lessons from Prevalent Diagnostic and Therapeutic Practices.

Muranjan M, Patil S.

Indian Pediatr. 2016 Aug 8;53(8):685-8. Epub 2016 Jun 1.

15.

Novel mutations of the arylsulphatase B (ARSB) gene in Indian patients with mucopolysaccharidosis type VI.

Uttarilli A, Ranganath P, Jain SJ, Prasad CK, Sinha A, Verma IC, Phadke SR, Puri RD, Danda S, Muranjan MN, Jevalikar G, Nagarajaram HA, Dalal AB.

Indian J Med Res. 2015 Oct;142(4):414-25. doi: 10.4103/0971-5916.169201.

16.

Muddy clinical waters: a missed betel nut in the bronchus.

Karande S, Vaideeswar P, Muranjan M.

BMJ Case Rep. 2015 Nov 23;2015. pii: bcr2015212919. doi: 10.1136/bcr-2015-212919.

17.

Erratum to: The Face of Lysosomal Storage Disorders in India: A Need for Early Diagnosis.

Agarwal S, Lahiri K, Muranjan M, Solanki N.

Indian J Pediatr. 2015 Oct;82(10):973. doi: 10.1007/s12098-015-1836-x. No abstract available.

PMID:
26144569
18.

Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease.

Ankleshwaria C, Mistri M, Bavdekar A, Muranjan M, Dave U, Tamhankar P, Khanna V, Jasinge E, Nampoothiri S, Edayankara Kadangot S, Sheth F, Gupta S, Sheth J.

J Hum Genet. 2015 May;60(5):285. doi: 10.1038/jhg.2015.27. No abstract available.

PMID:
26008600
19.

Atypical rabies encephalitis in a six-year-old boy: clinical, radiological, and laboratory findings.

Karande S, Muranjan M, Mani RS, Anand AM, Amoghimath R, Sankhe S, Belludi AY, Madhusudana SN.

Int J Infect Dis. 2015 Jul;36:1-3. doi: 10.1016/j.ijid.2015.05.005. Epub 2015 May 11.

20.

The face of lysosomal storage disorders in India: a need for early diagnosis.

Agarwal S, Lahiri K, Muranjan M, Solanki N.

Indian J Pediatr. 2015 Jun;82(6):525-9. doi: 10.1007/s12098-014-1628-8. Epub 2014 Dec 9. Erratum in: Indian J Pediatr. 2015 Oct;82(10):973.

PMID:
25482214
21.

A mistaken identity: rhabdomyosarcoma of the middle ear cleft misdiagnosed as chronic suppurative otitis media with temporal lobe abscess.

Muranjan M, Karande S, Parikh S, Sankhe S.

BMJ Case Rep. 2014 Sep 19;2014. pii: bcr2014206615. doi: 10.1136/bcr-2014-206615.

22.

Enzyme replacement therapy for lysosomal storage disorders in India.

Muranjan M.

Mol Cytogenet. 2014 Jan 21;7(Suppl 1 Proceedings of the International Conference on Human):I29. doi: 10.1186/1755-8166-7-S1-I29. eCollection 2014. No abstract available.

23.

Extracardiac birth defects in children with congenital heart defects.

Karande S, Patil V, Kher A, Muranjan M.

Indian Pediatr. 2014 May;51(5):389-91.

24.

The unforeseen toll of birth defects and their economic burden at a tertiary care public institute in Mumbai.

Muranjan M, Vijayalakshmi P.

Indian J Pediatr. 2014 Oct;81(10):1005-9. doi: 10.1007/s12098-014-1363-1. Epub 2014 Apr 26.

PMID:
24763813
25.

Chediak-Higashi syndrome in accelerated phase masquerading as severe acute malnutrition.

Karande S, Agarwal S, Gandhi B, Muranjan M.

BMJ Case Rep. 2014 Mar 31;2014. pii: bcr2014203763. doi: 10.1136/bcr-2014-203763.

26.

Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease.

Ankleshwaria C, Mistri M, Bavdekar A, Muranjan M, Dave U, Tamhankar P, Khanna V, Jasinge E, Nampoothiri S, Edayankara Kadangot S, Sheth F, Gupta S, Sheth J.

J Hum Genet. 2014 Apr;59(4):223-8. doi: 10.1038/jhg.2014.5. Epub 2014 Feb 13. Erratum in: J Hum Genet. 2015 May;60(5):285.

PMID:
24522292
27.

Atlas shrugged: cervical myelopathy caused by congenital atlantoaxial dislocation aggravated by child labor.

Parikh RN, Muranjan M, Karande S, Sankhe S.

Pediatr Neurol. 2014 Apr;50(4):380-3. doi: 10.1016/j.pediatrneurol.2013.11.014. Epub 2013 Nov 22.

PMID:
24486223
28.

Splice, insertion-deletion and nonsense mutations that perturb the phenylalanine hydroxylase transcript cause phenylketonuria in India.

Bashyam MD, Chaudhary AK, Kiran M, Nagarajaram HA, Devi RR, Ranganath P, Dalal A, Bashyam L, Gupta N, Kabra M, Muranjan M, Puri RD, Verma IC, Nampoothiri S, Kadandale JS.

J Cell Biochem. 2014 Mar;115(3):566-74. doi: 10.1002/jcb.24692.

PMID:
24130151
29.

Neonatal diabetes mellitus due to a novel ABCC8 gene mutation mimicking an organic acidemia.

Thakkar AN, Muranjan MN, Karande S, Shah NS.

Indian J Pediatr. 2014 Jul;81(7):702-4. doi: 10.1007/s12098-013-1102-z. Epub 2013 Jun 20.

PMID:
23783767
30.

Delayed diagnosis of tuberculous meningitis due to false-positive rapid test for brucellosis.

Patwardhan S, Karande S, Momin S, Muranjan M.

Pediatr Infect Dis J. 2013 Jan;32(1):95. doi: 10.1097/INF.0b013e31826bacd3. No abstract available.

PMID:
23241993
31.

Are Indian parents of children with Down syndrome engaged in the blame game?

Muranjan MN, Budyal SR, Shah HR.

Indian J Pediatr. 2013 Jul;80(7):560-4. doi: 10.1007/s12098-012-0888-4. Epub 2012 Oct 19.

PMID:
23080267
32.

Native aortic valve endocarditis secondary to Staphylococcus aureus bacteremia.

Karande S, Muranjan M.

Indian Pediatr. 2012 Sep;49(9):764. No abstract available.

33.

Novel biochemical abnormalities and genotype in Farber disease.

Muranjan M, Agarwal S, Lahiri K, Bashyam M.

Indian Pediatr. 2012 Apr;49(4):320-2.

34.

Left ventricular failure due to a rare variant of congenital adrenal hyperplasia.

Bhatia S, Muranjan MN, Lahiri KR.

Indian J Pediatr. 2012 Sep;79(9):1241-3. doi: 10.1007/s12098-011-0649-9. Epub 2012 Jan 10.

PMID:
22231770
35.

An observational, health service based survey for missed opportunities for immunization.

Muranjan M, Mehta C, Pakhare A.

Indian Pediatr. 2011 Aug;48(8):633-6.

PMID:
21719943
36.

Candida tropicalis endocarditis: Treatment in a resource-poor setting.

Kumar P, Muranjan MN, Tullu MS, Vaideeswar P, Kher A, Lahiri KR.

Ann Pediatr Cardiol. 2010 Jul;3(2):174-7. doi: 10.4103/0974-2069.74051.

37.

Human immunodeficiency virus (HIV) infection in a child presenting as acute disseminated encephalomyelitis.

Tullu MS, Patil DP, Muranjan MN, Kher AS, Lahiri KR.

J Child Neurol. 2011 Jan;26(1):99-102. doi: 10.1177/0883073810375717. Epub 2010 Jul 22.

PMID:
20656677
38.

Extrapontine myelinolysis in a child with nephrotic syndrome.

Tullu MS, Deshmukh I, Muranjan MN, Kher AS, Lahiri KR.

Pediatr Neurol. 2010 Aug;43(2):139-41. doi: 10.1016/j.pediatrneurol.2010.04.006.

PMID:
20610127
39.

Anterior sacral pyocele with meningitis: a rare presentation of occult spinal dysraphism with congenital dermal sinus.

Bhatia S, Tullu MS, Date NB, Muzumdar D, Muranjan MN, Lahiri KR.

J Child Neurol. 2010 Nov;25(11):1393-7. doi: 10.1177/0883073810365010. Epub 2010 Apr 2.

PMID:
20363962
40.

Phenotypic heterogeneity and parental origin of extra chromosome 21 in Down syndrome.

Muranjan M, Chaudhari T, Vundinti BR.

Indian Pediatr. 2010 May;47(5):429-32. Epub 2009 Jul 1.

PMID:
19671944
41.

Possible mechanism for zonisamide-induced hyperammonemia in a child with citrullinemia type 1.

Shaikh AY, Muranjan MN, Gogtay NJ, Lahiri KR.

Indian J Med Sci. 2009 May;63(5):203-6. doi: 10.4103/0019-5359.53168. No abstract available.

PMID:
19584493
42.

Diagnostic practice for organic acidemias: barriers to early diagnosis.

Agarwal RL, Muranjan MN.

Arch Dis Child. 2008 Nov;93(11):1000. doi: 10.1136/adc.2008.141242. No abstract available.

PMID:
18941026
43.

Psychological consequences in pediatric intensive care unit survivors: the neglected outcome.

Muranjan MN, Birajdar SB, Shah HR, Sundaraman P, Tullu MS.

Indian Pediatr. 2008 Feb;45(2):99-103.

44.

Sorting signals required for trafficking of the cysteine-rich acidic repetitive transmembrane protein in Trypanosoma brucei.

Qiao X, Chuang BF, Jin Y, Muranjan M, Hung CH, Lee PT, Lee MG.

Eukaryot Cell. 2006 Aug;5(8):1229-42.

45.

Unusual aero-digestive foreign bodies: tribulations and tragedies.

Muranjan M, Bavdekar S, Batra H, Birajdar S, Borwankar SS.

Int J Pediatr Otorhinolaryngol. 2005 Sep;69(9):1269-74.

PMID:
15955571
46.

Wolman disease: diagnosis by leucocyte acid lipase estimation.

Surve TY, Muranjan MN, Barucha BA.

Indian J Pediatr. 2005 Apr;72(4):353-4.

PMID:
15876766
47.

Effect of deferiprone on urinary zinc excretion in multiply transfused children with thalassemia major.

Bartakke S, Bavdekar SB, Kondurkar P, Muranjan MN, Manglani MV, Sharma R.

Indian Pediatr. 2005 Feb;42(2):150-4.

48.

Rabson-Mendenhall syndrome.

Kumar S, Tullu MS, Muranjan MN, Kamat JR.

Indian J Med Sci. 2005 Feb;59(2):70-3.

PMID:
15738613
49.

Incomplete monosymptomatic leptomeningeal angiomatosis.

Kumar S, Muranjan MN, Tullu MS, Lahiri KR.

Indian J Pediatr. 2004 Oct;71(10):947.

PMID:
15531846
50.

Anticonvulsant hypersensitivity syndrome: lymphocyte toxicity assay for the confirmation of diagnosis and risk assessment.

Bavdekar SB, Muranjan MN, Gogtay NJ, Kantharia V, Kshirsagar NA.

Ann Pharmacother. 2004 Oct;38(10):1648-50. Epub 2004 Aug 10.

PMID:
15304627

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