od concentrations of selenium and cadmium. Dr Dengfeng Gao discusses the significant associations reported in Association of selenium and cadmium with heart failure and mortality based on the National Health and Nutrition Examination Survey.

The paper is available to read here: https://onlinelibrary.wiley.com/doi/10.1111/jhn.13107

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Association of Selenium & Cadmium with Heart Failure & Mortality Based on the NHANES | Gao | JHND

Listener feedback link: https://form.jotform.com/240459204544050

Kunwar Jung-KC and Alba Tristán-Noguero discuss tyrosine hydroxylase deficiency and explain how the tyrosine hyodroxylase cofactor, BH4, has shown early therapeutic potential in human neurons and a knock-in mouse model. 

Tetrahydrobiopterin (BH4) treatment stabilizes tyrosine hydroxylase: Rescue of tyrosine hydroxylase deficiency phenotypes in human neurons and in a knock-in mouse model
Kunwar Jung-KC, Alba Tristán-Noguero, et al
https://doi.org/10.1002/jimd.12702

BH4 in tyrosine hydroxylase deficiency

The podcast returns to the subject of gene therapy, with Julien Baruteau, Nicola Brunetti-Pierri, and Paul Gissen discussing the potential of liver directed therapies with an emphasis on Wilson disease, Crigler-Najjar syndrome and PKU.

Liver-directed gene therapy for inherited metabolic diseases
Julien Baruteau, Nicola Brunetti-Pierri, Paul Gissen
https://doi.org/10.1002/jimd.12709

Liver directed gene therapy

This episode brings together two popular podcast topics, pregnancy and urea cycle disorders. Dr Margreet Wagenmakers and Dr Karolina Stepien share recent insights from a literature review and international survey exploring the experiences of mothers with urea cycle disorders. 

The management and clinical outcomes of pregnancies in women with urea cycle disorders: A review of the literature and results of an international survey
Karolina M. Stepien, et al
https://doi.org/10.1002/jimd.12695

Pregnancy in Urea Cycle Disorders

Dr Maren Thiel, Chair of the German speaking self-help group for fatty oxidation disorders, presents work completed with the Freiburg metabolic team looking at psychosocial issues and coping strategies in families affected by LC-FAOD.

Psychosocial issues and coping strategies in families affected by long-chain fatty acid oxidation disorders
Maren Thiel, et al
https://doi.org/10.1002/jmd2.12402

Shortcast: Psychosocial issues and coping strategies in families affected by long-chain FAOD

Mel McSweeney and Dr Mildrid Yeo briefly outline the approach to urea cycle disorder management and the Gt Ormond Street experience using glycerol phenylbutyrate as a nitrogen scavenger. 

Clinical experience with glycerol phenylbutyrate in 20 patients with urea cycle disorders at a UK paediatric centre
Mildrid Yeo, et al
https://doi.org/10.1002/jmd2.12386

Shortcast: Clinical experience with glycerol phenylbutyrate in 20 patients with UCDs

Dr Gustavo Spolador discusses the paucity of data around palliative care in Inherited Metabolic Disease and some of his own observations in a Brazilian quaternary hospital.

Pediatric palliative care for metabolic diseases: 20-year epidemiological survey of outpatients at a Brazilian quaternary hospital
Gustavo Marquezani Spolador, et al
https://doi.org/10.1002/jmd2.12417

Association of Selenium & Cadmium with Heart Failure & Mortality Based on the NHANES | Gao | JHND

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