Welcome to the "Immeasurably More" podcast, where faith and hope meet heartbreak and suffering in an uplifting journey of encouragement and perseverance. Join Erin Kelly-Bean and her mother, Jill Kelly as they delve into real stories and life-changing truths that remind us of the boundless love we can experience when we anchor our lives in who God is and who He created us to be. From personal testimonies to thought-provoking and sometimes challenging discussions with special guests, each epi ...
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Leukodystrophy Podcasts
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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UK Radiology SpRs helping you revise for Radiology FRCR exams - effortlessly! Our new RAPIDS channel is now available, featuring short episodes for those of you in a hurry https://anchor.fm/songs-4-frcr-rapids
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Summer Series #6 - Conversations with God - When You're Struggling with Anger, Frustration, & Unforgiveness
5:43
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5:43A Prayer for Processing What Hurts and Learning to Let Go Have you been holding onto pain, resentment, or unforgiveness? Maybe someone hurt you and never made it right — or maybe you’ve been angry with yourself, others, or even God. In this honest prayer, we bring it all to Him: • The pain we’ve buried • The people we haven’t forgiven • The emotion…
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Penetrance, expressivity, and outcomes in classic galactosemia
26:57
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26:57In this episode we discuss new insights into the variability of long-term outcomes in classic galactosemia. Joining me are Nikki Smith, Olivia Garrett, and Judy Fridovich-Keil, who together explore how complications in cognitive, motor, and speech domains emerge, cluster, and vary in severity across patients. Their study highlights both patterns an…
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Summer Series #5 - Conversations with God - When You Need Direction & Purpose
5:54
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5:54A Prayer for When You Feel Lost or Unsure of What’s Next... Have you ever found yourself wondering, “What am I even doing with my life?” or “God, where are You leading me?” If you're feeling stuck in the in-between — unsure of your next step or questioning your purpose — this episode of Summer Conversations with God is for you. Through guided praye…
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IMD Research Round-Up: Lysosomal Storage Disorders
37:59
37:59
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37:59Silvia and Rodrigo are joined by Dr Ray Wang, Director of the multidisciplinary Foundation of Caring Lysosomal Storage Disorder Program at the Children's Hospital of Orange County. Silvia asks Dr Wang and Rodrigo (who also happens to be a researcher in this field) about cutting-edge advances in LSD research: from base editing in Pompe disease and p…
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Summer Series #4 - Conversations with God - If You're Feeling Alone & Need Encouragement
4:19
4:19
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4:19A Prayer for the Discouraged and Disconnected Heart... Have you ever felt like life is just happening around you — while inside, you're tired, disconnected, or discouraged? Maybe you don’t have a plan right now. Maybe joy feels out of reach. Maybe you're wondering if God even sees you. If you’ve been feeling alone — even in a room full of people — …
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What if one enzyme could link metabolism, epigenetics, and therapy across conditions as diverse as epilepsy, cancer, and inflammation?In this episode, we dive into the fascinating world of adenosine kinase (ADK), an ancient enzyme that controls adenosine levels, energy balance, and even DNA methylation. Dr Detlev Boison join us to discuss their rec…
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Summer Series #3 - Conversations with God - When You're Anxious, Afraid, & Full of Worry
6:06
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6:06If you’ve been feeling anxious, overwhelmed, or afraid — this prayer is for you. In this episode of Summer Conversations with God, we’re bringing our fears to the One who sees, cares, and offers something better: peace. Not the kind that comes from perfect circumstances — but a peace that calms our hearts, quiets our minds, and carries us through t…
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Footprints of IMD: Movement Disorders... with Dakota Peacock and Darius Ebrahimi-Fakhari
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20:37The first updated Footprints article requires two guests to do it justice - Dr Dakota Peacock and Dr Darius Ebrahimi-Fakhari join Eva Morava to discuss movement disorders in Inherited Metabolic Disease.Read the referenced paper here: https://doi.org/10.1016/j.ymgme.2025.109084Find IMDs associated with psychiatric presentations at: https://www.iemba…
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Summer Series #2 - Conversations with God - When You're Tired, Weary, & Overwhelmed
5:41
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5:41Feeling overwhelmed, exhausted, or like life is just too much right now? This episode is for you. Together, we’ll lay down the weight of stress, fatigue, and emotional overload — and ask God for what only He can give: His peace, His strength, His presence. You don’t have to carry it all alone. God invites you to come as you are — not strong, just p…
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Metabolic mysteries: Incidental adrenal calcifications in a neonate
5:55
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5:55A newborn with no symptoms, an unexpected X-ray finding, and a puzzle that points in many possible directions. Follow Dr. Tolulope Tolufase as he unpacks a neonatal case where incidental adrenal calcifications conceal a far deeper mystery.Read the full report here: https://doi.org/10.1136/bcr-2025-265278…
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Summer Series #1 - Conversations with God - About Who God Is & Who We Are
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5:17We’re kicking off our Summer Series: Conversations with God in the best place possible — with God Himself. Who He is. How He sees us. And why that changes everything. If you’ve been feeling forgotten, unloved, or unsure of your worth, this prayer is for you. We’ll be reminded through Scripture that God is faithful, kind, and near. His love defines …
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In this episode, we speak with Irena Muffels and Eva Morava about their recent review, The Therapeutic Future for Congenital Disorders of Glycosylation. We explore the three pillars they propose for advancing CDG treatment: improving disease models, enhancing clinical trial readiness, and finding scalable strategies that move us beyond one-gene-at-…
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In this episode, Prof Chris Vorster (Director, Centre for Human Metabolomics, North-West University, South Africa), Sarah Viall (Assistant Professor, Molecular and Medical Genetics, Oregon Health & Science University, USA) and PD Dr. med. Ulrike Mütze (Consultant, Heidelberg University Hospital, Germany) join Silvia Radenkovic and Rodrigo Starosta …
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In this episode, Sabine Fuchs and Eva Hoytema discuss their recent work exploring the expanding clinical spectrum of aminoacyl-tRNA synthetase deficiencies, highlighting diagnostic challenges and emerging insights into this complex group of rare disorders.Setting the Stage for Treatment of Aminoacyl-tRNA Synthetase (ARS)1-Deficiencies: Phenotypic C…
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Shortcast: Investigating the utility of leukocyte sialic acid measurements in Lysosomal FSASD
4:22
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4:22Marya Sabir shares new insights into the utility of leukocyte sialic acid levels as a diagnostic and monitoring tool in free sialic acid storage disorder.Investigating the Utility of Leukocyte Sialic Acid Measurements in Lysosomal Free Sialic Acid Storage DisorderMarya S. Sabir, et alhttps://doi.org/10.1002/jmd2.70029…
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Diagnostic delay in Metachromatic Leukodystrophy
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21:31Dr Laura Adang returns to the podcast, this time discussing diagnostic delays in early onset forms of metachromatic leukodystrophy and explains why the only logical route to prompt diagnosis is newborn screening and how gene therapy might lead to a 'normal' life for children, if only we can find them early enough.Characterizing Diagnostic Delays in…
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Words are powerful—and in this episode, we’re unpacking just how much they matter. Join us as we walk through our Speak Life booklet, created for this year’s Mental Health Awareness Month. While it was designed with May in mind, its message is for every day of the year. Whether you're navigating your own mental health journey or walking alongside s…
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IMD Research Round-Up: Glycogen Storage Disorders
32:51
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32:51In this episode, Dr Joost Groen, a clinical biochemist at the University Medical Center Groningen, and Dr Matt Gentry, Professor & Chair of Biochemistry & Molecular Biology in the College of Medicine at University of Florida, join Rodrigo and Silvia to discuss new insights, AI, cancer metabolism and some of their favourite papers on Glycogen Storag…
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What I Learned From My Counselor - You're Human
43:16
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43:16We weren’t created to have all the answers, carry all the weight, or see the full picture. We’re human—and that’s not a flaw, it’s a fact. In this final episode of our What I Learned from My Counselor series, we’re talking about embracing our God-given limitations and letting go of the pressure to do it all, fix it all, or understand it all. Becaus…
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In this latest episode, we explore what's next for treating classic galactosemia. The discussion is anchored in two fascinating recent publications, including the wide-angle perspective from “Reshaping the Treatment Landscape of a Galactose Metabolism Disorder” and a deep dive into something delightfully unexpected: purple sweet potato color (PSPC)…
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What I Learned From My Counselor - What you feed grows
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33:27Whether it's fear or faith, worry or worship, bitterness or gratitude — the things we consistently give our thoughts, time, and energy to will shape the direction of our lives. In this episode, we talk about this simple truth: what you feed grows. We’ll unpack how this principle shows up in both our spiritual walk and everyday struggles, and we’ll …
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Metabolic mysteries: GI bleeding, gallbladder polyps and evolving developmental delay
8:25
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8:25Dr JP Stevens shares the mystery of a 5-year-old boy presenting with severe gastrointestinal bleeding and cholestasis. Inpatient investigation reveals gallbladder polyps and, on assessment after recovery he is found to have signs of developmental delay. Can you recognise the clues in the presentation?https://onlinelibrary.wiley.com/doi/10.1097/PG9.…
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What I Learned From My Counselor - Hiding always hurts
26:17
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26:17We all do it... We hide behind smiles, busyness, perfectionism, or silence—afraid of what might happen if we’re really seen. But the truth is, hiding always hurts. What we think protects us often keeps us stuck, disconnected, and weighed down. In this episode, we’re talking about the emotional and spiritual cost of hiding our pain, our struggles, a…
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Lottie Morison joins the podcast to discuss recent insights around speech and language progression and assessment in CLN2 and CLN3 disease. Lottie is the first speech and language pathologist to lead an episode and brilliant exemplifies the multidisciplinary nature of IMD care. Speech, Language and Non-verbal Communication in CLN2 and CLN3 Batten D…
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A special episode of the podcast as we visit the presentation day for the Metbionet Metabolic Minds leadership programme to hear about a plan to safeguard the future of specialist biochemistry services in the UK. Dr Rachel Carling explains the programme and then we hear from three of the course candidates, Dr Alana Burns, Annabel Wong and Freya Has…
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What I Learned From My Counselor - You don't pick fruit from the tree the day you plant it
23:24
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23:24We live in a world that craves instant results—but growth takes time. Healing takes time. Breakthrough takes time. In this episode, we’re talking about the process of becoming. Just like a seed doesn’t produce fruit overnight, the work God is doing in your life might not be visible yet—but that doesn’t mean it’s not happening. He’s always working. …
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Dr Luciana Hannibal, Research Group Leader / Head of Translational Metabolomics at the Centre for Integrative Biological Signalling Studies in Freiburg, and Dr Julien Park, a Physician-scientist at the Children's University Hospital Münster, are Rodrigo and Silvia's latest guests, providing a thorough overview of disorders of Redox Metabolism. Auth…
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What I Learned From My Counselor - Nothing is wasted!
25:45
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25:45In this episode of What I Learned From My Counselor, we’re talking about the powerful truth that with God—nothing is ever wasted. Not your heartbreak. Not your waiting. Not even your mistakes. We’ll share personal stories and biblical encouragement to remind you that God is the ultimate Redeemer. He takes what the enemy meant for harm and uses it f…
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Dr Travis Johnson and Dr Sarah Mele join the podcast to explain why flies make great models for Short-chain enoyl-CoA hydratase 1 deficiency (ECHS1D) and how their work is shedding light on different treatment modalities.Valine Restriction Extends Survival in a Drosophila Model of Short-Chain Enoyl-CoA Hydratase 1 (ECHS1) DeficiencySarah Mele, et a…
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What I Learned From My Counselor - You don't need to understand why
18:35
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18:35Have you ever found yourself stuck in the endless loop of asking why? Why did this happen? Why now? Why me? Why God? In this episode, we’re talking about the hard truth that sometimes… we just don’t get the answers we long for and we may never know why. But even when the “why” is missing, God’s presence is not. He doesn’t always explain, but He nev…
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Metabolic mysteries: A child with episodic seizures and multiple diagnoses
5:21
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5:21Dr Mrinmayee Takle and Dr Kuntal Sen discuss the challenging dilemma of a child, presenting from infancy with recurrent seizures and three different (wrong) diagnoses including opsoclonus-myoclonus-ataxia syndrome.Read the article: https://doi.org/10.1002/cns3.20098Mrinmayee Takle, Dhwani Sahjwani, Diana Bharucha-Goebel, Tyler Rapp, Cecilia Bouska,…
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What I Learned From My Counselor - You're not stuck!
17:43
17:43
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17:43Have you ever felt like you’re just spinning your wheels—emotionally, mentally, or even spiritually? Like no matter how hard you try, nothing changes? In this episode, we’re talking about the powerful reminder that you are not stuck. Even when life feels confusing or progress feels invisible, God is still moving in your life. We’ll share honest con…
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Managing Metabolic Emergencies - Intoxication type disorders
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26:35Treatment is available for most intoxication-type disorders, but would you know what to do in an emergency. In this podcast, Dr Dexter Tarr discusses the acute management when these conditions cause encephalopathy, seizures, stroke-like episodes, thromboses, liver failure, cardiac failure, arrhythmias and rhabdomyolysis. Emergency Management of Int…
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What I Learned From My Counselor - You won't always feel this way
21:45
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21:45I learned from my counselor that although my feelings in this moment are real and valid, I won’t always feel this way. If you’ve ever felt stuck in a season of sadness, fear, doubt, anxiety, exhaustion, or heartbreak—this episode is for you. We’re talking about the powerful truth that emotions are real, but they are not permanent. We share personal…
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IEMs in Adult Metabolic Centres: 10 Years Later
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22:50Michel Tchan and Mirjam Langeveld join the podcast to look at changes to adult IMD services over the last decade and consider the challenge to develop services to meet the needs of growing patient numbers over the next 10 years.The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: 10 Years Later, Another Report From t…
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In this special episode, we’re bringing you a fun and much anticipated Baby Bean update—with none other than dad-to-be Parker Bean joining Erin behind the mic! We’re sharing all the latest about this incredible season of expectancy: how Erin’s been feeling, what God is teaching them in the waiting, and how they’re preparing their hearts and home fo…
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IMD Research Round-Up: Methylmalonic Aciduria
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34:17Dr Sabine Fuchs, Professor of Metabolic diseases and innovative therapies at the UMC Utrecht, and Dr Sean Froese, a Principal Investigator in the Metabolism Division at University Children’s Hospital Zürich, join Rodrigo and Silvia to discuss new insights and some of their favourite papers on Methylmalonic Aciduria. Authors opinions are their own a…
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For the moms… The soon-to-be moms… The moms learning to let go… The moms wiping tears… The moms tying shoes and packing lunches… The moms anxiously praying and waiting on God… And to the courageous moms whose children now live in heaven... This is for you. In honor of Mother’s Day, we’re sharing 20 words of wisdom to uplift your heart, encourage yo…
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Shortcast: Sleep quality in children with hepatic GSDs, a prospective observational pilot study
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8:38Lucas Agnoletto and Dr Rebecca Halligan report work looking at sleep quality in children with hepatic GSDs, considering whether sleep is impacted by poor glycemic control or our efforts to improve this through overnight feeding.Sleep quality in children with hepatic glycogen storage diseases, a prospective observational pilot studyLucas Agnoletto, …
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The Overcoming Season - Overcoming Loss, Heartbreak, and Despair
35:12
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35:12Loss. Heartbreak. Despair. They can leave us feeling like the pieces will never come back together again. But what if those broken pieces are exactly what God uses to rebuild something stronger, deeper, and more beautiful? In this episode, we dive into what it means to walk through heartbreak and loss without losing hope. We talk honestly about the…
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Dr Carole Linster and Dr Nicole van Bergen explain why metabolism isn't perfect and how disorders of enzyme repair present their own challenges. In an episode that explores Niacin and longevity, we also hear why NAXD deficiency is an important differential in acute cardiomyopathy and provides an aetiology that could be highly amenable to treatment.…
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The Overcoming Season - Overcoming the Need to Control
30:11
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30:11Have you ever clung tightly to plans or outcomes, afraid of what might happen if you let go? Control can feel like safety, but often it reveals a struggle to trust God’s sovereignty. In today’s episode, we’re diving into one of faith’s hardest lessons—surrendering control. If you’ve ever felt the pressure to hold everything together, this conversat…
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Imaging readiness in the gene therapy era
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22:54Asthik Biswas, Spyros Batzios, and Kshitij Mankad expand on their recent letter to the editor to explain why ushering in the new era of gene therapy treatments requires not just clinical but also imaging readiness. Imaging readiness in the gene therapy era-exploring standardized protocols for response assessmentAsthik Biswas, et alhttps://doi.org/1…
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The Overcoming Season - Overcoming Feeling Overwhelmed & Exhausted
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32:00Feeling like you're running on empty? Are you at the end of your rope? In this episode, we dive deep into the very real experience of feeling overwhelmed and exhausted—mentally, emotionally, and physically. Whether you're juggling too many responsibilities, stuck in a cycle of burnout, or just struggling to find your footing, this episode is for yo…
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IMD Research Round-Up: Congenital Disorders of Glycosylation
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39:58Dr Matthew Wilson, Postdoctoral Fellow at the Centre for Human Genetics, KU Leuven, joins hosts Silvia Radenkovic and Rodrigo Starosta to discuss a scintillating selection of CDG papers in our first ever research round-up. Authors opinions are their own and do not represent their institutions.The papers discussed include:A pseudoautosomal glycosyla…
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Exploring the disease burden in Arginase 1 deficiency
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27:51It's an Arg1 extravaganza as Reena Sharma, Sara Olofsson, Karolina Stepien and Alison Woodall discuss three separate papers looking at the Salford Royal experience of a cohort of adults with Arginase 1 deficiency and the wider health and societal cost of the condition. Retrospective analysis of arginase 1 deficiency progression in adults over 5 yea…
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The Overcoming Season - Overcoming Your Past
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29:44In this episode, we dive deep into the powerful journey of overcoming your past and stepping into the freedom and life God has for you. Whether you're carrying the weight of mistakes, shame, or painful memories, know this: your past does not define you—God does. We'll explore how faith can be the key to healing, how Scripture reminds us that we are…
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Shortcast: D,L-3-hydroxybutyrate in the treatment of glucose transporter 1 deficiency syndrome (Glut1DS)
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5:12In this Shortcast, Dr Aya Amer presents the New Zealand experience of using ketone (D,L-3-HB) supplementation in 12 patients (aged 10-50 years) with GLUT1DS.D,L-3-hydroxybutyrate in the treatment of glucose transporter 1 deficiency syndrome (Glut1DS)Aya Amer, et alhttps://doi.org/10.1002/jmd2.12461By Journal of Inherited Metabolic Disease
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The Overcoming Season - Overcoming Perfectionism & People Pleasing
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26:25Are you constantly striving for perfection, afraid of letting others down, or feeling exhausted from trying to meet everyone’s expectations? In this episode, we dive deep into the struggles of perfectionism and people-pleasing—how they hold us back, drain our joy, and keep us from walking in the freedom God intends for us. Through faith-filled enco…
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Marshall Summar explains why common polymorphisms and basic physiology mean that L-citrulline may have a role in sickle cell disease, bronchopulmonary dysplasia and even asthma.Potential therapeutic uses of L-citrulline beyond genetic urea cycle disordersMarshall Summarhttps://doi.org/10.1002/jimd.12810…
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