Metabolic disorders

Copper-histidine therapy in an infant with novel splice-site variant in the ATP7A gene of Menkes disease: the first experience in South East Asia and literature review
Ekkarit Panichsillaphakit, Tanisa Kwanbunbumpen, Sirinuch Chomtho, Chonnikant Visuthranukul

BMJ Case Reports CP Apr 2022, 15 (4) e247937; DOI: 10.1136/bcr-2021-247937
A typical presentation of type B insulin resistance syndrome with isolated hypoglycaemia and suppressed insulin
Natasha Brown, Stephen Du Toit, John Conaglen, Marianne Elston

BMJ Case Reports CP Feb 2022, 15 (2) e246523; DOI: 10.1136/bcr-2021-246523
Successful living kidney donation from a patient with a Gitelman’s syndrome
Milad Darrat, Hannah Likinyo, Shin-Howe Ryan Winata, Sarah Morgan, Aisling E Courtney, John Lindsay

BMJ Case Reports CP Feb 2022, 15 (2) e246162; DOI: 10.1136/bcr-2021-246162
Refractory familial hypokalaemic periodic paralysis leading to cardiovascular compromise
Dominic O Awuah, Murtaza S Hussain, Anoosha Ponnapalli, Smit Sunil Deliwala, Elfateh M Seedahmed, Ghassan Bachuwa

BMJ Case Reports CP Feb 2022, 15 (2) e246674; DOI: 10.1136/bcr-2021-246674
Macro-B₁₂ masking B₁₂ deficiency
Bruce H R Wolffenbuttel, Anneke C Muller Kobold, Agata Sobczyńska‐Malefora, Dominic J Harrington

BMJ Case Reports CP Jan 2022, 15 (1) e247660; DOI: 10.1136/bcr-2021-247660
Starvation ketoacidosis and refeeding syndrome
Angela Heulwen Boal, Maurizio Panarelli, Caroline Millar

BMJ Case Reports CP Dec 2021, 14 (12) e245065; DOI: 10.1136/bcr-2021-245065
Prolidase deficiency in an infant with an incidental finding of methaemoglobinaemia
Chern Yan Tan, Easwari Kothandaraman, Arunabha Ghosh

BMJ Case Reports CP Nov 2021, 14 (11) e244155; DOI: 10.1136/bcr-2021-244155
Severe refeeding syndrome after human chorionic gonadotropin diet: a potentially lethal complication
Max J Schunemann, Martina Bertschinger, Christian Trachsel, Esther Bachli

BMJ Case Reports CP Nov 2021, 14 (11) e244011; DOI: 10.1136/bcr-2021-244011
Endoscopic resection of tendon xanthoma in the elbow of a patient with cerebrotendinous xanthomatosis
Katsumasa Nakazawa, Koichi Yano, Yasunori Kaneshiro, Hideki Sakanaka

BMJ Case Reports CP Nov 2021, 14 (11) e244931; DOI: 10.1136/bcr-2021-244931
Single-stage surgical correction of a bilateral acquired coxa vara deformity in a young woman
Aabid Husain Ansari, Amit Kumar Gupta, Abhishek Vaish, Raju Vaishya

BMJ Case Reports CP Oct 2021, 14 (10) e245754; DOI: 10.1136/bcr-2021-245754

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Metabolic disorders

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