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
11.
Wade L, Aindow A, Isherwood L, Mughal M, Ramakrishnan R
J Pediatr Endocrinol Metab
. 2022 Jan;
35(4):549-556.
PMID: 35073615
Objectives: Neonatal severe hyperparathyroidism (NSHPT) due to pathogenic mutations in the calcium-sensing receptor (CASR) is a serious medical condition that can lead to symptomatic hypercalcaemia and has detrimental effects on...
12.
Khadora M, Mughal M
Bone Rep
. 2021 Oct;
15:101138.
PMID: 34660853
Cutaneous skeletal hypophosphatemia syndrome (CSHS) is a rare disorder caused by somatic mosaicism for the gain of function mutations . Affected patients have segmental epidermal nevi, dysplastic cortical bony lesions,...
13.
Ireland A, Riddell A, Prentice A, Eelloo J, Mughal M, Ward K
Bone
. 2021 Oct;
154:116183.
PMID: 34600162
Neurofibromatosis type 1 (NF1) is associated with lower bone mass and increased risk of fracture. Children with NF1 display faltering growth from mid-childhood. However, to date tibia bone development in...
14.
Normal Mid-Gestation Fetal Ultrasonography Cannot Reliably Exclude Severe Perinatal Hypophosphatasia
Chinoy A, Iruloh C, Kerr B, Mughal M, Padidela R
Horm Res Paediatr
. 2021 Aug;
94(7-8):307-312.
PMID: 34438404
Introduction: Hypophosphatasia is a systemic bone disease characterized by inhibition of bone mineralization due to mutations in the ALPL gene that results in a deficiency of tissue nonspecific alkaline phosphatase....
15.
Ferreira C, Kintzinger K, Hackbarth M, Botschen U, Nitschke Y, Mughal M, et al.
J Bone Miner Res
. 2021 Aug;
36(11):2193-2202.
PMID: 34355424
Generalized arterial calcification of infancy (GACI) is a rare disorder caused by ENPP1 or ABCC6 variants. GACI is characterized by low pyrophosphate, arterial calcification, and high mortality during the first...
16.
Juraibah F, Al Amiri E, Al Dubayee M, Al Jubeh J, Al Kandari H, Al Sagheir A, et al.
Arch Osteoporos
. 2021 Mar;
16(1):52.
PMID: 33660084
Introduction: X-linked hypophosphatemia (XLH) is a rare inherited cause of hypophosphatemic rickets and osteomalacia. It is caused by mutations in the phosphate-regulating endopeptidase homolog, X-linked (PHEX). This results in increased...
17.
Crowe F, Mughal M, Maroof Z, Berry J, Kaleem M, Abburu S, et al.
Pediatrics
. 2021 Jan;
147(1).
PMID: 33386335
Background And Objectives: Vitamin D is essential for healthy development of bones, but little is known about the effects of supplementation in young stunted children. Our objective was to assess...
18.
Ferreira C, Hackbarth M, Ziegler S, Pan K, Roberts M, Rosing D, et al.
Genet Med
. 2020 Oct;
23(2):396-407.
PMID: 33005041
Purpose: Generalized arterial calcification of infancy (GACI), characterized by vascular calcifications that are often fatal shortly after birth, is usually caused by deficiency of ENPP1. A small fraction of GACI...
19.
Padidela R, Yates R, Benscoter D, McPhail G, Chan E, Nichani J, et al.
Orphanet J Rare Dis
. 2020 Aug;
15(1):204.
PMID: 32762706
Background: Perinatal and infantile hypophosphatasia (HPP) are associated with respiratory failure and respiratory complications. Effective management of such complications is of key clinical importance. In some infants with HPP, severe...
20.
Agarwal N, Agarwal U, Alfirevic Z, Lim J, Kaleem M, Landes C, et al.
Bone Rep
. 2020 Jun;
12:100280.
PMID: 32490054
Background: Generalised arterial calcification of infancy (GACI) is a rare disorder characterised by the deposition of hydroxyapatite crystals within the vessel walls. It is associated with a high mortality rate....