Alexander Broomfield
Overview
Explore the profile of Alexander Broomfield including associated specialties, affiliations and a list of published articles.
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Articles
21
Citations
582
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Recent Articles
1.
Schoser B, van der Beek N, Broomfield A, Brusse E, Diaz-Manera J, Hahn A, et al.
Eur J Neurol
. 2024 Jun;
31(9):e16383.
PMID: 38873957
Background And Purpose: Two novel enzyme replacement therapies (ERTs), studied in phase 3 trials in late-onset Pompe patients, reached marketing authorization by the European Medicines Agency in 2022 and 2023....
2.
Kishnani P, Kronn D, Suwazono S, Broomfield A, Llerena J, Al-Hassnan Z, et al.
Orphanet J Rare Dis
. 2023 Dec;
18(1):381.
PMID: 38057861
Background: Studies indicate that doses of alglucosidase alfa (ALGLU) higher than label dose (20 mg/kg every other week) improve clinical outcomes in infantile-onset Pompe disease (IOPD). We investigated data from...
3.
Palmer E, Stepien K, Campbell C, Barton S, Iosifidis C, Ghosh A, et al.
Orphanet J Rare Dis
. 2023 Sep;
18(1):265.
PMID: 37667371
Background: Gyrate atrophy of the choroid and retina is a rare autosomal recessive metabolic disorder caused by biallelic variants in the OAT gene, encoding the enzyme ornithine δ-aminotransferase. Impaired enzymatic...
4.
Stepien K, Broomfield A, Cole D, Deegan P, Forshaw-Hulme S, Hughes D, et al.
Orphanet J Rare Dis
. 2023 Jul;
18(1):203.
PMID: 37480023
Background: Fabry disease is a rare, X-linked inherited lysosomal storage disorder, that manifests as a heterogeneous disease with renal, cardiac and nervous system involvement. The most common pain experienced by...
5.
Kishnani P, Kronn D, Brassier A, Broomfield A, Davison J, Hahn S, et al.
Genet Med
. 2022 Dec;
25(2):100328.
PMID: 36542086
Purpose: Mini-COMET (NCT03019406; Sanofi) is a phase 2, open-label, ascending-dose, 3-cohort study, evaluating avalglucosidase alfa safety, pharmacokinetics, and efficacy in individuals with infantile-onset Pompe disease aged <18 years who previously...
6.
Smedley D, Smith K, Martin A, Thomas E, McDonagh E, Cipriani V, et al.
N Engl J Med
. 2021 Nov;
385(20):1868-1880.
PMID: 34758253
Background: The U.K. 100,000 Genomes Project is in the process of investigating the role of genome sequencing in patients with undiagnosed rare diseases after usual care and the alignment of...
7.
Potter J, Petts G, Ghosh A, White F, Kinsella J, Hughes S, et al.
Orphanet J Rare Dis
. 2021 May;
16(1):235.
PMID: 34020687
Background: Wolman disease is a rare, lysosomal storage disorder in which biallelic variants in the LIPA gene result in reduced or complete lack of lysosomal acid lipase. The accumulation of...
8.
Onofri A, Broomfield A, Tan H
Front Pediatr
. 2020 Oct;
8:548839.
PMID: 33102405
The number of children on long-term ventilation (LTV) has exponentially increased over the past few decades. Improvements in management of ventilation coupled with improvements in standards of medical care are...
9.
Sundarapandian R, Jones S, Broomfield A, Hensman P, Oxborrow N
Orphanet J Rare Dis
. 2020 Jun;
15(1):140.
PMID: 32503603
Objective: Thoracolumbar kyphosis is a common indication for spinal surgery in children with Mucopolysaccharidosis. Functional outcome of spinal surgical intervention has never been published in patients with this rare disease....
10.
Alston C, Veling M, Heidler J, Taylor L, Alaimo J, Sung A, et al.
Am J Hum Genet
. 2019 Dec;
106(1):92-101.
PMID: 31866046
Leigh syndrome is one of the most common neurological phenotypes observed in pediatric mitochondrial disease presentations. It is characterized by symmetrical lesions found on neuroimaging in the basal ganglia, thalamus,...