Inherited Pathology

Incidental detection of germline variants of potential clinical significance by massively parallel sequencing in haematological malignancies
Costas K Yannakou, Kate Jones, Georgina L Ryland, Ella R Thompson, Gareth Reid, Michelle McBean, Alison Trainer, David Westerman, Piers Blombery

Journal of Clinical Pathology Jan 2018, 71 (1) 84-87; DOI: 10.1136/jclinpath-2017-204481
The investigation and management of metabolic myopathies
Simon Edward Olpin, Elaine Murphy, Richard James Kirk, Robert William Taylor, Rosaline Quinlivan

Journal of Clinical Pathology Jun 2015, 68 (6) 410-417; DOI: 10.1136/jclinpath-2014-202808
Cholesteryl ester storage disease: a rare and possibly treatable cause of premature vascular disease and cirrhosis
Tim Reynolds

Journal of Clinical Pathology Nov 2013, 66 (11) 918-923; DOI: 10.1136/jclinpath-2012-201302
Inherited metabolic disorders and dyslipidaemia
Raashda A Sulaiman

Journal of Clinical Pathology Jul 2020, 73 (7) 384-390; DOI: 10.1136/jclinpath-2019-205910
Screening of genetic variants in ELANE mutation negative congenital neutropenia by next generation sequencing
Arun Kumar Arunachalam, Hemamalini Suresh, Eunice Sindhuvi Edison, Anu Korula, Fouzia N Aboobacker, Biju George, Ramachandran V Shaji, Vikram Mathews, Poonkuzhali Balasubramanian

Journal of Clinical Pathology Jun 2020, 73 (6) 322-327; DOI: 10.1136/jclinpath-2019-206306
Selective screening of late-onset Pompe disease (LOPD) in patients with non-diagnostic muscle biopsies
Marija Meznaric, Ksenija Fumic, Lea Leonardis

Journal of Clinical Pathology Jul 2019, 72 (7) 468-472; DOI: 10.1136/jclinpath-2018-205446
Urinary excretion of porphyrins, porphobilinogen and δ-aminolaevulinic acid following an attack of acute intermittent porphyria
Joanne T Marsden, David C Rees

Journal of Clinical Pathology Jan 2014, 67 (1) 60-65; DOI: 10.1136/jclinpath-2012-201367
Electronic chemical pathology consultation service and dried blood spot metabolic screening in hospital patients
Chloe Miu Mak, Wai-Kwan Siu, Chun-Yiu Law, Chi-Keung Wong, Hon-Kit Lee, Sam Yeung, Chak-On Sham, Kong Tse, Hencher Han-Chih Lee, Sammy Pak-Lam Chen, Chor-Kwan Ching, Chui-Kwan Au, Wing-Tat Poon, Ching-Wan Lam, Ngai-Shan Kwong, Albert Yan-Wo Chan

Journal of Clinical Pathology Dec 2012, 65 (12) 1141-1145; DOI: 10.1136/jclinpath-2012-200837

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Inherited Pathology