M Zulf Mughal
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Explore the profile of M Zulf Mughal including associated specialties, affiliations and a list of published articles.
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66
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1470
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Recent Articles
1.
Boot A, Ariceta G, Beck-Nielsen S, Brandi M, Briot K, Collantes C, et al.
Ther Adv Chronic Dis
. 2024 May;
15:20406223241247643.
PMID: 38764445
Background: X-linked hypophosphatemia (XLH) is a rare, progressive disorder characterized by excess fibroblast growth factor 23 (FGF23), causing renal phosphate-wasting and impaired active vitamin D synthesis. Burosumab is a recombinant...
2.
Boardman-Pretty F, Clift A, Mahon H, Sawoky N, Mughal M
J Clin Endocrinol Metab
. 2024 Feb;
109(8):2012-2018.
PMID: 38335127
Context: X-linked hypophosphatemia (XLH) is a rare genetic disorder causing renal phosphate wasting, which predicates musculoskeletal manifestations such as rickets. Diagnosis is often delayed. Objective: To explore the recording of...
3.
Elbadry M, Tawfeek A, Hirano T, El-Mokhtar M, Kenawey M, Helmy A, et al.
Br J Haematol
. 2023 Nov;
204(3):1086-1095.
PMID: 37926112
By whole exome sequencing, we identified a homozygous c.2086 C→T (p.R696C) TERT mutation in patients who present with a spectrum of variable bone marrow failure (BMF), raccoon eyes, dystrophic nails,...
4.
Ariceta G, Beck-Nielsen S, Boot A, Brandi M, Briot K, Collantes C, et al.
Orphanet J Rare Dis
. 2023 Sep;
18(1):304.
PMID: 37752558
Background: X-linked hypophosphatemia (XLH) is a rare, hereditary, progressive, renal phosphate-wasting disorder characterized by a pathological increase in FGF23 concentration and activity. Due to its rarity, diagnosis may be delayed,...
5.
Chinoy A, Nicholson J, Skae M, Hannan F, Thakker R, Mughal M, et al.
J Pediatr
. 2023 Mar;
257:113367.
PMID: 36868303
Objectives: To evaluate the prevalence and degree of any neurodevelopmental abnormalities in children with familial hypocalciuric hypercalcemia type 3 (FHH3). Study Design: A formal neurodevelopmental assessment was performed in children...
6.
Mughal M, Baroncelli G, de Lucas-Collantes C, Linglart A, Magnolato A, Raimann A, et al.
Front Endocrinol (Lausanne)
. 2023 Feb;
13:1034580.
PMID: 36798486
Given the relatively recent introduction of burosumab in the management of X-linked hypophosphatemia (XLH), there is limited real-world data to guide its use in clinical practice. As a group of...
7.
Suntharesan J, Agarwal U, Lim J, Collingwood C, Avula S, Mughal M, et al.
Calcif Tissue Int
. 2022 Oct;
111(6):646-652.
PMID: 36220940
Generalised arterial calcification of infancy (GACI) is an ultra-rare life-threatening genetic disorder. Arterial calcification is identified during foetal ultrasound scan (USS) as increased cardiac and/or vascular echogenicity. Inorganic pyrophosphate (PP)...
8.
Brandi M, Ariceta G, Beck-Nielsen S, Boot A, Briot K, Collantes C, et al.
Ther Adv Chronic Dis
. 2022 Sep;
13:20406223221117471.
PMID: 36082134
Background: X-linked hypophosphataemia (XLH) is a rare, inherited, phosphate-wasting disorder that elevates fibroblast growth factor 23 (FGF23), causing renal phosphate-wasting and impaired active vitamin D (1,25(OH)D) synthesis. Disease characteristics include...
9.
Alwan I, Al Issa N, Al Anazi Y, Al Noaim K, Mughal M, Babiker A
Case Rep Endocrinol
. 2022 Mar;
2022:7072815.
PMID: 35265381
Vitamin D intoxication (VDI) usually develops due to inappropriate use of vitamin D in high doses by the families of infants with complaints suggestive of vitamin D deficiency such as...
10.
Chinoy A, Vassallo G, Burkitt Wright E, Eelloo J, West S, Hupton E, et al.
J Musculoskelet Neuronal Interact
. 2022 Mar;
22(1):70-78.
PMID: 35234161
Neurofibromatosis type 1 (NF1) can affect multiple systems in the body. An under recognised phenotype is one of muscle weakness. Clinical studies using dynamometry and jumping mechanography have demonstrated that...