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Clinical and Molecular Spectrum of Patients with Methylmalonic Acidemia.
Gupta N, Endrakanti M, Bhat M, Rao N, Kaur R, Kabra M. Gupta N, et al. Among authors: kabra m. Indian J Pediatr. 2023 Jul 8. doi: 10.1007/s12098-023-04651-4. Online ahead of print. Indian J Pediatr. 2023. PMID: 37420116
Molecular testing in 24 families showed 21 pathogenic or likely pathogenic variants with MMA cblC as the commonest molecular subtype (n = 8). B12 responsiveness, an important determinant of long-term outcome, was observed in eight patients [MMAA (n = 3) and MMACHC (n = 5)] …
Molecular testing in 24 families showed 21 pathogenic or likely pathogenic variants with MMA cblC as the commonest molecular subtype (n = 8) …
A Noninterventional Cohort Study Assessing Time to All-Cause Treatment Discontinuation After Initiation of Aripiprazole Once Monthly or Daily Oral Atypical Antipsychotic Treatment in Patients With Recent-Onset Schizophrenia.
Such P, Bøg M, Kabra MS, Jørgensen KT, de Jong-Laird AC. Such P, et al. Among authors: kabra ms. Prim Care Companion CNS Disord. 2021 Sep 30;23(5):20m02886. doi: 10.4088/PCC.20m02886. Prim Care Companion CNS Disord. 2021. PMID: 34592798 Free article.
Introduction: Aripiprazole once-monthly 400 mg (extended-release injectable suspension) is effective in long-term maintenance treatment of schizophrenia based on clinical studies. ...
Introduction: Aripiprazole once-monthly 400 mg (extended-release injectable suspension) is effective in long-term maintenance treatme …
Rapid Eye Movement (REM) Sleep Behavior Disorder and REM Sleep with Atonia in the Young.
Shukla G, Gupta A, Chakravarty K, Joseph AA, Ravindranath A, Mehta M, Gulati S, Kabra M, Mohammed A, Poornima S. Shukla G, et al. Among authors: kabra m. Can J Neurol Sci. 2020 Jan;47(1):100-108. doi: 10.1017/cjn.2019.302. Epub 2019 Oct 31. Can J Neurol Sci. 2020. PMID: 31549602
BACKGROUND: Rapid eye movement (REM) sleep behavior disorder (RBD) and REM sleep without atonia (RWA) have assumed much clinical importance with long-term data showing progression into neurodegenerative conditions among older adults. ...
BACKGROUND: Rapid eye movement (REM) sleep behavior disorder (RBD) and REM sleep without atonia (RWA) have assumed much clinical importance …
Genotype-Phenotype Correlations in CYP1B1-Associated Primary Congenital Glaucoma Patients Representing Two Large Cohorts from India and Brazil.
de Melo MB, Mandal AK, Tavares IM, Ali MH, Kabra M, de Vasconcellos JP, Senthil S, Sallum JM, Kaur I, Betinjane AJ, Moura CR, Paula JS, Costa KA, Sarfarazi M, Paolera MD, Finzi S, Ferraz VE, Costa VP, Belfort R Jr, Chakrabarti S. de Melo MB, et al. Among authors: kabra m. PLoS One. 2015 May 15;10(5):e0127147. doi: 10.1371/journal.pone.0127147. eCollection 2015. PLoS One. 2015. PMID: 25978063 Free PMC article.
CONCLUSIONS: The present study demonstrated a lack of genotype-phenotype correlation of the demographic and clinical traits to CYP1B1 mutations in PCG at presentation. However, the susceptibility of these mutations to the long-term progression of these traits are yet to be …
CONCLUSIONS: The present study demonstrated a lack of genotype-phenotype correlation of the demographic and clinical traits to CYP1B1 mutati …
Velaglucerase alfa (VPRIV) enzyme replacement therapy in patients with Gaucher disease: Long-term data from phase III clinical trials.
Hughes DA, Gonzalez DE, Lukina EA, Mehta A, Kabra M, Elstein D, Kisinovsky I, Giraldo P, Bavdekar A, Hangartner TN, Wang N, Crombez E, Zimran A. Hughes DA, et al. Among authors: kabra m. Am J Hematol. 2015 Jul;90(7):584-91. doi: 10.1002/ajh.24012. Am J Hematol. 2015. PMID: 25801797 Free PMC article. Clinical Trial.
Combining the experience of the initial phase III trials and the extension study, significant improvements were observed in the first 24 months from baseline in hematology variables, organ volumes, plasma biomarkers, and, in adults, the lumbar spine bone mineral density Z-score. …
Combining the experience of the initial phase III trials and the extension study, significant improvements were observed in the first 24 mon …
Diagnosis and management of Down syndrome.
Agarwal Gupta N, Kabra M. Agarwal Gupta N, et al. Among authors: kabra m. Indian J Pediatr. 2014 Jun;81(6):560-7. doi: 10.1007/s12098-013-1249-7. Epub 2013 Oct 15. Indian J Pediatr. 2014. PMID: 24127006
Children with Down syndrome when intervened early by speech therapy, physiotherapy and occupational therapy and given proper medical attention for different health issues, can have a better long term outcome as compared to other genetic causes of intellectual disability. . …
Children with Down syndrome when intervened early by speech therapy, physiotherapy and occupational therapy and given proper medical attenti …
Noninvasive screening for preclinical atherosclerosis in children on phenytoin or carbamazepine monotherapy: a cross sectional study.
Sankhyan N, Gulati S, Hari S, Kabra M, Ramakrishnan L, Kalra V. Sankhyan N, et al. Among authors: kabra m. Epilepsy Res. 2013 Nov;107(1-2):121-6. doi: 10.1016/j.eplepsyres.2013.08.011. Epub 2013 Sep 2. Epilepsy Res. 2013. PMID: 24050974
CONCLUSIONS: The results are preliminary but could signal the increased vulnerability of epileptic children on long term antiepileptics to have subclinical atherosclerosis....
CONCLUSIONS: The results are preliminary but could signal the increased vulnerability of epileptic children on long term antiepilepti …
Comparison of heart rate variability among children with well controlled versus refractory epilepsy: a cross-sectional study.
Raju KN, Choudhary N, Gulati S, Kabra M, Jaryal AK, Deepak KK, Pandey RM. Raju KN, et al. Among authors: kabra m. Epilepsy Res. 2012 Aug;101(1-2):88-91. doi: 10.1016/j.eplepsyres.2012.03.005. Epub 2012 Mar 28. Epilepsy Res. 2012. PMID: 22464679
There are reports that the adult group of intractable epilepsy patients have different autonomic profile than the well controlled epilepsy, but there is no clear evidence in the children epilepsy group, therefore, we planned to study the autonomic profile in well controlled and r …
There are reports that the adult group of intractable epilepsy patients have different autonomic profile than the well controlled epilepsy, …
Evaluation of subclinical hypothyroidism in ambulatory children with controlled epilepsy on valproate monotherapy.
Sahu JK, Gulati S, Kabra M, Arya R, Sharma R, Gupta N, Kaleekal T, Reeta Kh, Gupta YK. Sahu JK, et al. Among authors: kabra m. J Child Neurol. 2012 May;27(5):594-7. doi: 10.1177/0883073811421985. Epub 2011 Nov 22. J Child Neurol. 2012. PMID: 22114214
Results of the present study suggest higher prevalence of subclinical hypothyroidism in children with controlled epilepsy on long-term valproate monotherapy....
Results of the present study suggest higher prevalence of subclinical hypothyroidism in children with controlled epilepsy on long-term …
Idiopathic chronic pancreatitis in India: phenotypic characterisation and strong genetic susceptibility due to SPINK1 and CFTR gene mutations.
Midha S, Khajuria R, Shastri S, Kabra M, Garg PK. Midha S, et al. Among authors: kabra m. Gut. 2010 Jun;59(6):800-7. doi: 10.1136/gut.2009.191239. Gut. 2010. PMID: 20551465
CONCLUSION: Strong genetic susceptibility due to SPINK1 and CFTR gene mutations, and comparative phenotype of idiopathic CP in India suggest that the term 'tropical calcific pancreatitis' is a misnomer....
CONCLUSION: Strong genetic susceptibility due to SPINK1 and CFTR gene mutations, and comparative phenotype of idiopathic CP in India suggest …
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