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Page 1
Secondary Hyperparathyroidism in Children with Mucolipidosis Type II (I-Cell Disease): Irish Experience.
J Clin Med. 2022 Mar 2;11(5):1366. doi: 10.3390/jcm11051366.
J Clin Med. 2022.
PMID: 35268460
Free PMC article.
The impact of COVID-19 pandemic on the diagnosis and management of inborn errors of metabolism: A global perspective.
Elmonem MA, Belanger-Quintana A, Bordugo A, Boruah R, Cortès-Saladelafont E, Endrakanti M, Giraldo P, Grünert SC, Gupta N, Kabra M, Knerr I, Krämer J, Kuster A, Levtchenko E, Ngu LH, Rovira-Remisa MM, Sass JO, Sykut-Cegielska J, Tummolo A, van den Heuvel LP.
Elmonem MA, et al. Among authors: boruah r.
Mol Genet Metab. 2020 Nov;131(3):285-288. doi: 10.1016/j.ymgme.2020.09.004. Epub 2020 Sep 25.
Mol Genet Metab. 2020.
PMID: 33004274
Free PMC article.
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Autonomic instability, arrhythmia and visual impairment in a new presentation of MTFMT-related mitochondrial disease.
Howard C, Dev-Borman A, Stokes J, O'Rourke D, Gillespie C, Twomey E, Knerr I, Boruah R.
Howard C, et al. Among authors: boruah r.
JIMD Rep. 2022 Dec 8;64(2):150-155. doi: 10.1002/jmd2.12355. eCollection 2023 Mar.
JIMD Rep. 2022.
PMID: 36873085
Free PMC article.
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