JIMD Podcasts is home to the Journal of Inherited Metabolic Disease podcast and the JIMD Shortcast. We're also proud to showcase Metabolic Mysteries and the new Footprints in IMD podcast.
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Footprints of IMD: Metabolic Liver Disease... with David Cassiman
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Nenad Blau hosts Professor David Cassiman as he explains when to consider a metabolic differential in pediatric and adult liver disease. Read the referenced paper here: https://doi.org/10.1016/j.ymgme.2019.04.002Find liver disorders associated with IMDS at: http://iembase.org/gamuts/store/docs/Liver_disorders_in_inherited_metabolic_disorders.pdf…
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Shortcast: Normal transferrin glycosylation does not rule out severe ALG1 deficiency
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In the latest shortcast, Inez Bosnyak describes a case of ALG1-CDG presenting without an abnormal isoelectric focusing pattern. Normal transferrin glycosylation does not rule out severe ALG1 deficiencyInez Bosnyak, et alhttps://doi.org/10.1002/jmd2.12415על ידי Journal of Inherited Metabolic Disease
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Speech & neural oscillation in classic galactosemia
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Dr Estela Rubio-Gozalbo and Dr Bernadette Jansma explain why brains oscillate, what that has to do with classical galactosemia and how a non-invasive intervention could help with language difficulties. Altered neural oscillations in classical galactosaemia during sentence productionSara Mazzini, et alhttps://doi.org/10.1002/jimd.12740Impact of thet…
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Shortcast: Late-onset refractory hemolytic anemia in siblings treated for MTRR deficiency
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Alexandre Nguyen and Manuel Schiff share the story of two siblings with severe haemolytic anaemia developing in previously well controlled methionine synthase reductase deficiency.Late-onset refractory hemolytic anemia in siblings treated for methionine synthase reductase deficiency: A rare complication possibly prevented by hydroxocobalamin dose e…
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Lessons from adult metabolic medicine
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Dr Fanny Mochel returns to the podcast to answer the question, "What can pediatricians learn from adult inherited metabolic diseases?"What can pediatricians learn from adult inherited metabolic diseases?Fanny Mochelhttps://doi.org/10.1002/jimd.12729על ידי Journal of Inherited Metabolic Disease
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Metabolic mysteries: A treatable condition masquerading as TORCH Infection
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Dr Vykunta Raju K N, Professor of Paediatric Neurology discusses a child presenting with IUGR, microcephaly, cataracts, developmental delay, seizures, and cerebral atrophy.L-Serine Biosynthesis Defect: A Treatable Condition Masquerading as TORCH InfectionVykuntaraju K. Gowda et alhttps://link.springer.com/article/10.1007/s12098-024-05181-3…
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Footprints of IMD: the IEMbase and Cerebral Palsy... with Gabriella Horvath
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Eva Morava discusses the creation of the IEMbase with Nenad Blau before the pair welcome Gabriella Horvath to discuss metabolic mimics of cerebral palsy in the first episode of the footprints series. Read the referenced paper here: https://doi.org/10.1016/j.ymgme.2021.03.008Find all the metabolic mimics of CP at http://iembase.org/gamuts/store/docs…
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Dr Maja Risager Nielsen and Dr François Feillet discuss pregnancy in PKU and two different papers looking at the outcomes in pregnancies with and without BH4 treatment. The impact of phenylalanine levels during pregnancy on birth weight and later development in children born to women with phenylketonuriaMaja Risager Nielsen, et alhttps://doi.org/10…
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Acute liver failure? Think metabolic
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When might acute liver failure have a metabolic cause? Dr Robert Hegarty tries to answer this question and more following his recent review article on Genetic aetiologies of acute liver failure.Genetic aetiologies of acute liver failureRobert Hegarty, Richard J. Thompsonhttps://doi.org/10.1002/jimd.12733…
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Dr Mariko Bennett and Dr Laura Adang discuss the precarious balance between a protective and a destructive immune response, as is seen in inborn errors in nucleotide metabolism. Our discussion focuses on the most common of these disorders: Aicardi Goutières syndrome (AGS). Sadly, despite the many gains in understanding about AGS, there remain many …
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Shortcast: Pediatric palliative care for IMD: 20-year survey of outpatients at a Brazilian hospital
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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 hospitalGustavo Marquezani Spolador, et alhttps://doi.or…
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Pregnancy in Urea Cycle Disorders
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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 cy…
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Shortcast: Clinical experience with glycerol phenylbutyrate in 20 patients with UCDs
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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 centreMildrid Yeo, et alhttps://doi.org/10.1002/jmd2.1…
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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 diseasesJulien Baruteau, Nicola Brunetti-Pierri, Paul Gissenhtt…
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Shortcast: Psychosocial issues and coping strategies in families affected by long-chain FAOD
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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 disordersMaren Thi…
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BH4 in tyrosine hydroxylase deficiency
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Listener feedback link: https://form.jotform.com/240459204544050Kunwar 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 hydroxylas…
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Shortcast: Lysinuric protein intolerance exhibiting RTA/Fanconi syndrome in a Japanese woman
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Dr Hiroki Hanafusa presents the unusual case of a woman who was initially diagnosed with Fanconi Syndrome and later found to have Lysinuric Protein Intolerance.Lysinuric protein intolerance exhibiting renal tubular acidosis/Fanconi syndrome in a Japanese womanHiroaki Hanafusa, et alhttps://doi.org/10.1002/jmd2.12392…
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How to proceed after a "negative" exome
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A superlative trio, Dr Machteld Oud, Dr Clara van Karnebeek and Dr Saskia Wortmann join the podcast to explain the importance of diagnostics, why all exomes aren't equal and just how should you proceed after a 'negative' exome.How to proceed after “negative” exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomic…
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Shortcast: Neuropsychological stability in classical galactosemia: A pilot study in 10 adults
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Merel Hermans describes her work reviewing neuropsychological stability in adults with classical galactosemia.Neuropsychological stability in classical galactosemia: A pilot study in 10 adult patientsMerel E. Hermans, et alhttps://doi.org/10.1002/jmd2.12410על ידי Journal of Inherited Metabolic Disease
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Food or medicine? Nutritional therapies in IMD
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Returning guests, Nina Stolwijk and Dr Carla Hollak, and their colleague Dr Annet Bosch, try to untangle the tricky subject of regulation in nutritional products used as therapies in IMD. They also present a framework for when a food should be considered a medicine. Food or medicine? A European regulatory perspective on nutritional therapy products…
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Metabolic mysteries: Three children with neurological symptoms and coagulopathy
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Shelby Mills on behalf of the UTH Medical Genetics Team, invites you to consider three mystery cases serving to hi-light some common, and some less common, presenting features for a treatable inherited metabolic disease.Arginase deficiency masked by cerebral palsy and coagulopathy—Three varied presentations of Latin American originShelby L. Mills, …
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Movement disorders and mRNA therapy in Arginosuccinic aciduria
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Dr Sonam Gurung and Dr Julien Baruteau discuss movement disorders in Arginosuccinic aciduria and explain how recent work with mRNA therapy shows potential as a treatment in this condition.The incidence of movement disorder increases with age and contrasts with subtle and limited neuroimaging abnormalities in argininosuccinic aciduriaGurung et alhtt…
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Metabolic mysteries: Recurrent miscarriage and congenital anomalies
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Dr Malak Alghamdi unravels the mystery of a 32-year-old woman with a history of recurrent miscarriage and early neonatal death with congenital anomalies. Classical phenylketonuria presenting as maternal PKU syndrome in the offspring of an intellectually normal womanMalak Ali Alghamdi, et al https://doi.org/10.1002/jmd2.12384…
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Hepatic presentations in mitochondrial depletion syndromes
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In this podcast, Dr Roshni Vara discusses the experience of a single paediatric liver centre with children whose liver failure arose due to a mitochondrial DNA depletion syndrome.Hepatic presentations of mitochondrial DNA depletion syndrome in children: A single tertiary liver centre experienceR. Vara, et alhttps://doi.org/10.1002/jimd.12633…
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Shortcast: Lysosomal storage disorders identified in adult population from India
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Professor Jayesh Sheth shares 20 years of insights on diagnosing adult onset lysosomal storage disorders at a tertiary genetic centre in India.Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literatureJayesh Sheth, et alhttps://doi.org/10.1002/jmd2.12407…
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Genomic newborn screening: are we entering a new era of screening?
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Dr David Bick, Dr Jim Bonham MBE and Henrietta Hopkins re-create a panel from the SSIEM Annual Meeting in 2022 to discuss the use of whole genome sequencing in NBS, asking "are we entering a new era of screening?"Genomic newborn screening: Are we entering a new era of screening?Ute Spiekerkoetter, et alhttps://doi.org/10.1002/jimd.12650…
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Shortcast: A case of hyperlysinemia identified by urine newborn screening
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Dr Sander Houten discusses a child with hyperlysinemia diagnosed via newborn screening and whether this reflects a disease or just a metabolic perturbation. This distinction is relevant as inducing this state may be a treatment option in GA1 or pyridoxine dependent epilepsy. A case of hyperlysinemia identified by urine newborn screeningMehdi Yegane…
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The Journal of Inherited Metabolic Disease Editorial Committee come together to talk about the direction of metabolic medicine, the dangers and potential of AI, impact factors, reviewing papers and their publication hopes for 2024. There's also a little metabolic quiz, allowing you to pit your wits against the committee. Featuring: Shamima Rahman, …
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Shortcast: Relationship between plasma & capillary blood Phe using volumetric collection devices
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Blood spots are integral to disease monitoring in PKU, however, there are concerns regarding correlation between capillary and plasma levels and discrepancies arising based on sampling quality and storage. Dr Rachel Carling explains how a volumetric blood collection device presents a cost effective way to improve consistency and reduce rejected sam…
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Deciphering pathogenicity with CRISPR/Cas9
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In our latest podcast, Antonia Ribes, Frederic Tort, and Gerard Muñoz-Pujol discuss CRISPR/Cas9 based technique for the validation of genetic variants requiring just the genetic data. CRISPR/Cas9-based functional genomics strategy to decipher the pathogenicity of genetic variants in inherited metabolic disordersGerard Muñoz-Pujol, et alhttps://doi.…
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Shortcast: Grip strength in patients with galactosemia and in a GALT-null rat model
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In the latest Shortcast, Jared J. Druss and Professors Nancy Potter and Judy Fridovich-Keil discuss grip strength in galactosemia (and how competitive boys can bias study results).Grip strength in patients with galactosemia and in a galactose-1-phosphate uridylyltransferase (GALT)-null rat modelJared J. Druss, et alhttps://doi.org/10.1002/jimd.1268…
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Gene therapy in Glycogen Storage Disorders
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Dr Dwight Koeberl joins the podcast to provide some background to gene therapies in Glycogen Storage Disorders, hi-light some ongoing studies and explain why we owe at least some of our knowledge to a menagerie of animal models. Gene therapy for glycogen storage diseasesDwight D. Koeberl, et alhttps://doi.org/10.1002/jimd.12654…
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Shortcast: Screening data for 19 patients with late-onset Pompe disease for a phase I clinical trial
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Dr Will Heath describes insights form screening data derived from 19 patients enrolled in a phase 1 study in late-onset Pompe disease.Screening data from 19 patients with late-onset Pompe disease for a phase I clinical trial of AAV8 vector-mediated gene therapyWilliam B. Hannah, et alhttps://doi.org/10.1002/jmd2.12391…
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CAD deficiency: Beyond the genetics
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In an ensemble piece, Dr Saskia Wortmann, Dr Hud Freeze, and Dr Santiago Ramón-Maiques discuss CAD deficiency and the challenge of finding new ways to validate genetic variants when pathogenicity seems uncertain. Beyond genetics: Deciphering the impact of missense variants in CAD deficiencyFrancisco del Caño-Ochoa, et alhttps://doi.org/10.1002/jimd…
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Shortcast: Diagnosis and management of children with McArdle Syndrome (GSD V) in New South Wales
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Dr Kaustuv Bhattacharya explains the insights of his team into the diagnosis and management of a cohort of children with McArdle Syndrome and challenges some of the conceptions around this disease. Diagnosis and management of children with McArdle Syndrome (GSD V) in New South WalesLouisa Adams, et alhttps://doi.org/10.1002/jmd2.12389…
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Shortcast: PIGO-CDG: A case study, phenotypic expansion, lit review, and nosological considerations
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Dr Rodrigo Starosta describes the management of a challenging presentation of PIGO-CDG and discusses insights into this rare GPI-anchor disorder. PIGO-CDG: A case study with a new genotype, expansion of the phenotype, literature review, and nosological considerationsRodrigo Tzovenos Starosta, et alhttps://doi.org/10.1002/jmd2.12396…
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It's a 2-for-1 podcast as Dr Mattias Lissing of the Karolinska Institute joins us to discuss two recent papers looking at cancer risk, comorbidity and mortality in the acute porphyrias.Risk for incident comorbidities, nonhepatic cancer and mortality in acute hepatic porphyria: A matched cohort study in 1244 individualsMattias Lissing, et alhttps://…
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Metabolic mysteries: Post-partum ataxia and confusion
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Dr Markey McNutt of UT South Western describes a patient presenting with post-partum ataxia and confusion and just when you think you know the answer there's an extra mystery at the end. Read the paper here:https://doi.org/10.1002/jmd2.12388על ידי Journal of Inherited Metabolic Disease
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Shortcast: A retrospective cohort study of Libmeldy (atidarsagene autotemcel) for MLD
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Dr Claire Horgan discusses the first year of offering gene therapy to patients with metachromatic leukodystrophy (MLD) in the UK. When given in a timely fashion the impact is incredible but large numbers of children remain ineligible for treatment. A retrospective cohort study of Libmeldy (atidarsagene autotemcel) for MLD: What we have accomplished…
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In this podcast, Dr Kristen Skvorak discusses the development and testing of a new oral enzyme for the treatment of Maple Syrup Urine Disease. Oral enzyme therapy for maple syrup urine disease (MSUD) suppresses plasma leucine levels in intermediate MSUD mice and healthy nonhuman primatesKristen Skvorak, et alhttps://doi.org/10.1002/jimd.12662…
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Shortcast: Comparison of subcutaneous and intravenous moss-aGal in Fabry disease mouse model
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Enzyme Replacement Therapy (ERT) has changed the course of several lysosomal storage disorders but regular, intravenous administration is not without its issues. In this latest Shortcast, Dr Paulina Dabrowska-Schlepp describes her group's work to develop subcutaneous ERT for Fabry Disease.Comparison of efficacy between subcutaneous and intravenous …
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Metabolic mysteries: A child with dystonia and MRI changes
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Dr Luisa Averdunk of the University Children's Hospital in Düsseldorf discusses the investigation of a 2-year-old presenting with acute episodes of dystonia and symmetrical basal ganglia abnormalities. Will you unravel this metabolic mystery before all is revealed?See the associated image and read the full report here:https://onlinelibrary.wiley.co…
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In our latest podcast we welcome Simon Waddington, Professor in Gene Transfer Technology at the EGA Institute for Women's Health. Professor Waddington discusses the development of fetal gene therapy and why it might be desirable to deliver gene therapy to the unborn child.Fetal gene therapySimon N. Waddington, et alhttps://doi.org/10.1002/jimd.1265…
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Shortcast: Interstitial lung disease and pancreatic exocrine insufficiency in CADDS
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Dr Oliver Heath describes a new patient with CADDS who developed pancreatic exocrine deficiency and interstitial lung disease. Interstitial lung disease and pancreatic exocrine insufficiency in CADDS: Phenotypic expansion and literature reviewOliver Heath, et alhttps://doi.org/10.1002/jmd2.12390על ידי Journal of Inherited Metabolic Disease
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Professor Ute Spiekerkoetter co-hosts a special episode of the podcast, compiled to accompany the SSIEM 2022 themed issue from September 2023 and look back on a wonderful meeting hosted in Freiburg the year before. This episode features three different papers and you jump straight to these at the following locations:6 min 25 sec: Dr Carla Hollak, N…
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Gene therapy in urea cycle disorders: a historical perspective and future prospects
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Dr Julien Baruteau joins the podcast to look back at the history of gene therapy research in Urea Cycle Disorders, and discuss the future of genomic therapies in this group of conditions with a high unmet need.Gene therapy for urea cycle defects: An update from historical perspectives to future prospectsClaire Duff, et alhttps://doi.org/10.1002/jim…
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Possible substrate reduction therapy in disorders of valine and isoleucine metabolism
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Dr Sander Houten of the Icahn School of Medicine returns to the podcast to explain his work exploring opportunities for substrate reduction therapy in disorders of valine and isoleucine metabolism.Acyl-CoA dehydrogenase substrate promiscuity: Challenges and opportunities for development of substrate reduction therapy in disorders of valine and isol…
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Shortcast: Prolonged respiratory failure treatment in isolated homocysteine remethylation defects
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In a 'short' Shortcast, Dr Julien Baruteau introduces his Report of two infantile-onset cases of remethylation defects and their response to treatment. Prolonged respiratory failure responds to conventional therapy in isolated homocysteine remethylation defectsAbigail Whitehouse, et alhttps://doi.org/10.1002/jmd2.12375…
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A clinical severity scoring system for succinic semialdehyde dehydrogenase deficiency
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Dr Itay Latzer, from Boston Children's Hospital, joins the podcast to discuss the development and utility of a clinical severity scoring system in the ultra-rare disease SSADHD.Establishment and validation of a clinical severity scoring system for succinic semialdehyde dehydrogenase deficiencyItay Tokatly Latzer, et alhttps://doi.org/10.1002/jimd.1…
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Shortcast: Expanding the phenotypic and genotypic spectrum of CARS2-related mitochondrial disease
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Dr Emma Glamuzina of the National Metabolic Service in New Zealand, describes a neonatal presentation of CARS2- related mitochondrial disease and the diagnostic challenges this brought in a pre-exome/genome era. Severe neonatal onset neuroregression with paroxysmal dystonia and apnoea: Expanding the phenotypic and genotypic spectrum of CARS2-relate…
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