Anjum MN - Search Results

1

Variability of clinical and biochemical phenotype in liver phosphorylase kinase deficiency with variants in the phosphorylase kinase (PHKG2) gene.

Waheed N, Saeed A, Ijaz S, Fayyaz Z, Anjum MN, Zahoor Y, Cheema HA. Waheed N, et al. Among authors: anjum mn. J Pediatr Endocrinol Metab. 2020 Sep 25;33(9):1117-1123. doi: 10.1515/jpem-2019-0603. J Pediatr Endocrinol Metab. 2020. PMID: 32697758

2

Clinical Spectrum Of Solitary Rectal Ulcer In Children Presenting With Per-Rectal Bleed.

Anjum MN, Cheema HA, Malik HS, Hashmi MA. Anjum MN, et al. J Ayub Med Coll Abbottabad. 2017 Jan-Mar;29(1):74-77. J Ayub Med Coll Abbottabad. 2017. PMID: 28712179 Free article.

3

Mapping of IDUA gene variants in Pakistani patients with mucopolysaccharidosis type 1.

Zahoor MY, Cheema HA, Ijaz S, Anjum MN, Ramzan K, Bhinder MA. Zahoor MY, et al. Among authors: anjum mn. J Pediatr Endocrinol Metab. 2019 Nov 26;32(11):1221-1227. doi: 10.1515/jpem-2019-0188. J Pediatr Endocrinol Metab. 2019. PMID: 31473686

4

Mutational spectrum of SMPD1 gene in Pakistani Niemann-Pick disease patients.

Cheema HA, Rasool IG, Anjum MN, Zahoor MY. Cheema HA, et al. Among authors: anjum mn. Pak J Med Sci. 2020 Mar-Apr;36(3):479-484. doi: 10.12669/pjms.36.3.467. Pak J Med Sci. 2020. PMID: 32292456 Free PMC article.

5

Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility.

Cheema H, Bertoli-Avella AM, Skrahina V, Anjum MN, Waheed N, Saeed A, Beetz C, Perez-Lopez J, Rocha ME, Alawbathani S, Pereira C, Hovakimyan M, Patric IRP, Paknia O, Ameziane N, Cozma C, Bauer P, Rolfs A. Cheema H, et al. Among authors: anjum mn. NPJ Genom Med. 2020 Oct 5;5:44. doi: 10.1038/s41525-020-00150-z. eCollection 2020. NPJ Genom Med. 2020. PMID: 33083013 Free PMC article.

6

Very early onset inflammatory bowel disease: Spectrum of clinical presentation, diagnostic tools and outcome in children.

Cheema HA, Waheed N, Saeed A, Fayyaz Z, Anjum MN, Alvi MA, Batool SS. Cheema HA, et al. Among authors: anjum mn. J Pak Med Assoc. 2021 Oct;71(10):2350-2354. doi: 10.47391/JPMA.05-725. J Pak Med Assoc. 2021. PMID: 34974569 Free article.

7

Management challenges of Rabson Mendenhall syndrome in a resource limited country: a case report.

Aftab S, Shaheen T, Asif R, Anjum MN, Saeed A, Manzoor J, Cheema HA. Aftab S, et al. Among authors: anjum mn. J Pediatr Endocrinol Metab. 2022 Sep 16;35(11):1429-1432. doi: 10.1515/jpem-2022-0214. Print 2022 Nov 25. J Pediatr Endocrinol Metab. 2022. PMID: 36106528

8

Clinical spectrum and diagnostic challenges of vitamin D dependent rickets type 1A (VDDR1A) caused by CYP27B1 mutation in resource limited countries.

Aftab S, Khan SA, Malik MI, Imran A, Anjum MN, Saeed A, Qureshi AA, Cheema HA. Aftab S, et al. Among authors: anjum mn. J Pediatr Endocrinol Metab. 2022 Dec 19;36(2):152-157. doi: 10.1515/jpem-2022-0550. Print 2023 Feb 23. J Pediatr Endocrinol Metab. 2022. PMID: 36524979

9

Clinical and Genetic Description of Hereditary Chronic Pancreatitis in Pakistani Children.

Cheema HA, Fayyaz Z, Saeed A, Anjum MN, Ijaz S, Alvi MA, Batool SS. Cheema HA, et al. Among authors: anjum mn. Turk J Gastroenterol. 2023 Oct;34(10):1088-1098. doi: 10.5152/tjg.2023.22791. Turk J Gastroenterol. 2023. PMID: 37603299 Free PMC article.

10

The Mutational Landscape Of Genetic Cholestatic Diseases In Pakistani Children.

Cheema HA, Waheed N, Saeed A, Anjum MN, Fayyaz Z, Ijaz S. Cheema HA, et al. Among authors: anjum mn. J Pak Med Assoc. 2023 Aug;73(8):1610-1621. doi: 10.47391/JPMA.7069. J Pak Med Assoc. 2023. PMID: 37697751 Free article.

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