So delighted for Nancy Potter and the whole team - Babble Boot Camp - don’t wait till they’re not speaking. Proactive #apraxia
Therapy works. pubs.asha.org/doi/10.1044/...
Therapy works. pubs.asha.org/doi/10.1044/...
Novel Proactive Speech-Language Intervention Is More Effective Than Usual Care: Randomized Controlled Trial of Babble Boot Camp for Infants With Classic Galactosemia
Purpose: Speech and language disorders cannot be diagnosed and treated until children
are approximately 2–4 years old. To investigate whether the...
pubs.asha.org
September 11, 2026 at 11:42 AM
So delighted for Nancy Potter and the whole team - Babble Boot Camp - don’t wait till they’re not speaking. Proactive #apraxia
Therapy works. pubs.asha.org/doi/10.1044/...
Therapy works. pubs.asha.org/doi/10.1044/...
what difference do the benefits make if mom doesn't have breast tissue. or mom is HIV+. or baby has galactosemia. or mom is taking essential medications that are passed via breastmilk. or baby needs fortified formulas
August 30, 2026 at 1:21 AM
what difference do the benefits make if mom doesn't have breast tissue. or mom is HIV+. or baby has galactosemia. or mom is taking essential medications that are passed via breastmilk. or baby needs fortified formulas
Examine six rare neonatal cases that will challenge everything you know about newborn diagnosis. From congenital glioblastoma to missed galactosemia, read more in the new issue of the Journal of Clinical Insights in Neonatology: bit.ly/JCIN21 @lakeridgehealth.bsky.social
August 19, 2026 at 5:05 PM
Examine six rare neonatal cases that will challenge everything you know about newborn diagnosis. From congenital glioblastoma to missed galactosemia, read more in the new issue of the Journal of Clinical Insights in Neonatology: bit.ly/JCIN21 @lakeridgehealth.bsky.social
Research from our dept on #genetherapy for #galactosemia is one of Journal of Inherited Metabolic Disease's top 10 most-cited papers #TopCitedArticle -- senior author Judy Fridovich-Keil is world expert on galactosemia #genesky 🧬https://onlinelibrary.wiley.com/doi/full/10.1002/jimd.12471
April 23, 2024 at 3:08 PM
Research from our dept on #genetherapy for #galactosemia is one of Journal of Inherited Metabolic Disease's top 10 most-cited papers #TopCitedArticle -- senior author Judy Fridovich-Keil is world expert on galactosemia #genesky 🧬https://onlinelibrary.wiley.com/doi/full/10.1002/jimd.12471
New from our researchers led by J. Fridovich-Keil: Long-term complications in classic #galactosemia are not progressive - authors analyzed Vineland scores for >100 cases: gaining milestones, but at slower pace than controls www.sciencedirect.com/science/arti...
Long-term complications in classic galactosemia are not progressive
Classic galactosemia (CG) is a potentially lethal genetic disorder that results from profound deficiency of galactose-1-P uridylyltransferase. Despite…
www.sciencedirect.com
October 30, 2023 at 5:01 PM
New from our researchers led by J. Fridovich-Keil: Long-term complications in classic #galactosemia are not progressive - authors analyzed Vineland scores for >100 cases: gaining milestones, but at slower pace than controls www.sciencedirect.com/science/arti...
🔹 Bluesky Post (shorter, to fit character limits)
New JIMD Podcast 🎙️ Nicole Smith, Olivia Garrett & Judy Fridovich-Keil discuss patterns of long-term outcomes in classic galactosemia, why complications vary, and why they cluster.
🎧 Listen: soundcloud.com/user-1090061...
#Galactosemia #RareDisease
New JIMD Podcast 🎙️ Nicole Smith, Olivia Garrett & Judy Fridovich-Keil discuss patterns of long-term outcomes in classic galactosemia, why complications vary, and why they cluster.
🎧 Listen: soundcloud.com/user-1090061...
#Galactosemia #RareDisease
September 23, 2025 at 12:31 PM
🔹 Bluesky Post (shorter, to fit character limits)
New JIMD Podcast 🎙️ Nicole Smith, Olivia Garrett & Judy Fridovich-Keil discuss patterns of long-term outcomes in classic galactosemia, why complications vary, and why they cluster.
🎧 Listen: soundcloud.com/user-1090061...
#Galactosemia #RareDisease
New JIMD Podcast 🎙️ Nicole Smith, Olivia Garrett & Judy Fridovich-Keil discuss patterns of long-term outcomes in classic galactosemia, why complications vary, and why they cluster.
🎧 Listen: soundcloud.com/user-1090061...
#Galactosemia #RareDisease
Classic galactosemia meets cell therapy 🧬
This GALT-null rat model shows how bone marrow transplantation could one day aid enzyme restoration—especially in the brain and gonads.
Still early days, but intriguing signals.
🔗 doi.org/10.1002/jmd2...
#IMD #Galactosemia #RareDisease #MetabolicResearch
This GALT-null rat model shows how bone marrow transplantation could one day aid enzyme restoration—especially in the brain and gonads.
Still early days, but intriguing signals.
🔗 doi.org/10.1002/jmd2...
#IMD #Galactosemia #RareDisease #MetabolicResearch
July 18, 2025 at 10:13 AM
Classic galactosemia meets cell therapy 🧬
This GALT-null rat model shows how bone marrow transplantation could one day aid enzyme restoration—especially in the brain and gonads.
Still early days, but intriguing signals.
🔗 doi.org/10.1002/jmd2...
#IMD #Galactosemia #RareDisease #MetabolicResearch
This GALT-null rat model shows how bone marrow transplantation could one day aid enzyme restoration—especially in the brain and gonads.
Still early days, but intriguing signals.
🔗 doi.org/10.1002/jmd2...
#IMD #Galactosemia #RareDisease #MetabolicResearch
🎙️ New #JIMDPodcast
We’re talking future therapies in classic galactosemia—from big-picture thinking to... purple sweet potatoes? 🥔💜
Join Estela Rubio-Gozalbo, Kent Lai, Synneva Hagen-Lillevik & Bijina Balakrishnan
👉 open.spotify.com/episode/2YsN...
Or find us wherever you get your podcasts.
We’re talking future therapies in classic galactosemia—from big-picture thinking to... purple sweet potatoes? 🥔💜
Join Estela Rubio-Gozalbo, Kent Lai, Synneva Hagen-Lillevik & Bijina Balakrishnan
👉 open.spotify.com/episode/2YsN...
Or find us wherever you get your podcasts.
July 8, 2025 at 11:01 AM
🎙️ New #JIMDPodcast
We’re talking future therapies in classic galactosemia—from big-picture thinking to... purple sweet potatoes? 🥔💜
Join Estela Rubio-Gozalbo, Kent Lai, Synneva Hagen-Lillevik & Bijina Balakrishnan
👉 open.spotify.com/episode/2YsN...
Or find us wherever you get your podcasts.
We’re talking future therapies in classic galactosemia—from big-picture thinking to... purple sweet potatoes? 🥔💜
Join Estela Rubio-Gozalbo, Kent Lai, Synneva Hagen-Lillevik & Bijina Balakrishnan
👉 open.spotify.com/episode/2YsN...
Or find us wherever you get your podcasts.
New in JIMD Reports, this publication about an infant with Clinical Variant Galactosemia who followed a severe clinical course ultimately requiring a liver transplant. This high-lights the serious nature of this disease variant
doi.org/10.1002/jmd2...
doi.org/10.1002/jmd2...
May 10, 2025 at 6:11 AM
New in JIMD Reports, this publication about an infant with Clinical Variant Galactosemia who followed a severe clinical course ultimately requiring a liver transplant. This high-lights the serious nature of this disease variant
doi.org/10.1002/jmd2...
doi.org/10.1002/jmd2...
The Leloir pathway was described over 7 decades ago, there are significant shortcomings in the current approach to Galactosemia management.
This new article explores possible future therapies:
👉 doi.org/10.1002/jimd...
#galactosemia
This new article explores possible future therapies:
👉 doi.org/10.1002/jimd...
#galactosemia
February 17, 2025 at 2:17 PM
The Leloir pathway was described over 7 decades ago, there are significant shortcomings in the current approach to Galactosemia management.
This new article explores possible future therapies:
👉 doi.org/10.1002/jimd...
#galactosemia
This new article explores possible future therapies:
👉 doi.org/10.1002/jimd...
#galactosemia
Dietary management is the mainstay of therapy for a significant number of IMD which can lead to disruption of breast feeding but, aside from classic galactosemia, it is at least feasible
read on: doi.org/10.1002/jimd...
#visualabstract #breastfeeding
read on: doi.org/10.1002/jimd...
#visualabstract #breastfeeding
February 7, 2025 at 9:27 AM
Dietary management is the mainstay of therapy for a significant number of IMD which can lead to disruption of breast feeding but, aside from classic galactosemia, it is at least feasible
read on: doi.org/10.1002/jimd...
#visualabstract #breastfeeding
read on: doi.org/10.1002/jimd...
#visualabstract #breastfeeding
'E numbers' often get bad press in this new publication Bellagamba et al explore how E163 (the colouring of a purple sweet potato) and myo-inositol could help treat galactosemia. Why might a root vegetable help in a disorder of milk metabolism?
Read on:
doi.org/10.1002/jimd...
Read on:
doi.org/10.1002/jimd...
February 3, 2025 at 4:35 PM
'E numbers' often get bad press in this new publication Bellagamba et al explore how E163 (the colouring of a purple sweet potato) and myo-inositol could help treat galactosemia. Why might a root vegetable help in a disorder of milk metabolism?
Read on:
doi.org/10.1002/jimd...
Read on:
doi.org/10.1002/jimd...
Our latest Shortcast reviews neuropsychological stability in classical galactosemia with Merel Hermans
Listen on SoundCloud soundcloud.com/user-1090061...
Apple podcasts.apple.com/gb/podcast/j...
Spotify open.spotify.com/episode/1krw...
or wherever you get your podcasts.
Listen on SoundCloud soundcloud.com/user-1090061...
Apple podcasts.apple.com/gb/podcast/j...
Spotify open.spotify.com/episode/1krw...
or wherever you get your podcasts.
Shortcast: Neuropsychological stability in classical galactosemia: A pilot study in 10 adults
Merel Hermans describes her work reviewing neuropsychological stability in adults with classical galactosemia.
Neuropsychological stability in classical galactosemia: A pilot study in 10 adult patien
soundcloud.com
November 20, 2024 at 4:18 AM
Our latest Shortcast reviews neuropsychological stability in classical galactosemia with Merel Hermans
Listen on SoundCloud soundcloud.com/user-1090061...
Apple podcasts.apple.com/gb/podcast/j...
Spotify open.spotify.com/episode/1krw...
or wherever you get your podcasts.
Listen on SoundCloud soundcloud.com/user-1090061...
Apple podcasts.apple.com/gb/podcast/j...
Spotify open.spotify.com/episode/1krw...
or wherever you get your podcasts.
Judy and a collection of researchers working on galactosemia joined us to discuss longterm outcomes in adult galactosemia in the podcast. podcasts.apple.com/gb/podcast/j...
Adult outcomes in classic galactosemia
Podcast Episode · JIMD Podcasts · 11/10/2024 · 35m
podcasts.apple.com
November 10, 2024 at 3:51 AM
Judy and a collection of researchers working on galactosemia joined us to discuss longterm outcomes in adult galactosemia in the podcast. podcasts.apple.com/gb/podcast/j...
Well that was a kick in the teeth for investors and patients alike. On the bright side, the stock is at an amazing price now. Hope #APLT can get this resolved. #Govorestat
www.biospace.com/fda/applied-...
www.biospace.com/fda/applied-...
Applied Therapeutics Crashes After FDA Rejection of Rare Disease Drug
After extending its review period to evaluate additional submissions, the FDA ultimately denied Applied Therapeutics’ govorestat for galactosemia, citing “deficiencies” with the application. The biote...
www.biospace.com
December 2, 2024 at 8:38 PM
Well that was a kick in the teeth for investors and patients alike. On the bright side, the stock is at an amazing price now. Hope #APLT can get this resolved. #Govorestat
www.biospace.com/fda/applied-...
www.biospace.com/fda/applied-...
Summary of metabolic pathways biochemistry
#NEETPG2026 #INICET #NEXTExam #HighYieldReview #Biochemistry #Metabolism #Glycolysis #TCACycle #UreaCycle #HMPShunt #Gluconeogenesis #InbornErrors #Vitamins #EnzymeRegulation #Thiamine #VitaminB12 #InbornErrorsOfMetabolism #G6PD #VonGierke #Galactosemia
#NEETPG2026 #INICET #NEXTExam #HighYieldReview #Biochemistry #Metabolism #Glycolysis #TCACycle #UreaCycle #HMPShunt #Gluconeogenesis #InbornErrors #Vitamins #EnzymeRegulation #Thiamine #VitaminB12 #InbornErrorsOfMetabolism #G6PD #VonGierke #Galactosemia
Summary of Metabolic Pathways: High-Yield Chart for NEET PG & USMLE
Metabolic pathways form the foundational network of medical biochemistry. Review this integrated master roadmap tracing carbohydrate, lipid, and protein crossroads, highlighted with irreversible regulatory check-points and essential vitamin cofactors ($Latex B_1$, $Latex B_{12}$, Biotin).
mymedschool.org
June 5, 2026 at 11:50 PM
Summary of metabolic pathways biochemistry
#NEETPG2026 #INICET #NEXTExam #HighYieldReview #Biochemistry #Metabolism #Glycolysis #TCACycle #UreaCycle #HMPShunt #Gluconeogenesis #InbornErrors #Vitamins #EnzymeRegulation #Thiamine #VitaminB12 #InbornErrorsOfMetabolism #G6PD #VonGierke #Galactosemia
#NEETPG2026 #INICET #NEXTExam #HighYieldReview #Biochemistry #Metabolism #Glycolysis #TCACycle #UreaCycle #HMPShunt #Gluconeogenesis #InbornErrors #Vitamins #EnzymeRegulation #Thiamine #VitaminB12 #InbornErrorsOfMetabolism #G6PD #VonGierke #Galactosemia
🥛 Milk Sugar Malfunctions: Mastering Galactose Metabolism Disorders! 🥛
#USMLEStep1 #MedEd #Biochemistry #Metabolism #Galactosemia #Pediatrics #Step1Prep #HighYield #MedSchool #Genetics #Cataracts #Neonatology #FutureDoctor #StudyGram #MedTwitter
#USMLEStep1 #MedEd #Biochemistry #Metabolism #Galactosemia #Pediatrics #Step1Prep #HighYield #MedSchool #Genetics #Cataracts #Neonatology #FutureDoctor #StudyGram #MedTwitter
U01.01.107 Disorders of galactose metabolism
A specialized review of U01.01.107 Galactose Metabolism Disorders. Learn how the body processes milk sugar, why a deficiency in GALT leads to liver failure and mental retardation, and the importance of removing lactose from the diet immediately upon diagnosis.
mymedschool.org
April 10, 2026 at 5:59 PM
🥛 Milk Sugar Malfunctions: Mastering Galactose Metabolism Disorders! 🥛
#USMLEStep1 #MedEd #Biochemistry #Metabolism #Galactosemia #Pediatrics #Step1Prep #HighYield #MedSchool #Genetics #Cataracts #Neonatology #FutureDoctor #StudyGram #MedTwitter
#USMLEStep1 #MedEd #Biochemistry #Metabolism #Galactosemia #Pediatrics #Step1Prep #HighYield #MedSchool #Genetics #Cataracts #Neonatology #FutureDoctor #StudyGram #MedTwitter
Enhance your USMLE Step 1 prep with this Classic Galactosemia flashcard. Review key points including GALT deficiency, jaundice, hepatomegaly, cataracts, and risk of E. coli sepsis to reinforce clinical understanding of inborn errors of carbohydrate metabolism.
U01.17.023 Classic Galactosemia
Study this flashcard to identify the genetic defect, enzyme deficiency, and clinical manifestations of Classic Galactosemia. Recall the complications of galactose-1-phosphate uridyltransferase deficiency, including jaundice, hepatomegaly, and risk of E. coli sepsis in newborns.
mymedschool.org
October 28, 2025 at 4:21 PM
Enhance your USMLE Step 1 prep with this Classic Galactosemia flashcard. Review key points including GALT deficiency, jaundice, hepatomegaly, cataracts, and risk of E. coli sepsis to reinforce clinical understanding of inborn errors of carbohydrate metabolism.
Important collaboration supporting Traveller health care and galactosemia, a rare and serious condition where babies can become very ill from milk. Teamwork makes better care possible! 👏 #RareDisease #HealthEquity
& work goes on. Children's health Ireland funding new galactosemia project with Pavee Point & Rotunda
A project which enables Traveller health workers to bridge the gap between members of the community and the health service marks 30 years in operation today.
December 11, 2024 at 9:36 AM
Important collaboration supporting Traveller health care and galactosemia, a rare and serious condition where babies can become very ill from milk. Teamwork makes better care possible! 👏 #RareDisease #HealthEquity
If you’re ethnically Irish, you’re more likely to have Galactosemia. That doesn’t make being Irish a disorder. If you’re autistic, you’re more likely to have things like anxiety, autoimmune conditions, allergies, GI issues, etc but that doesn’t make autism a disorder.
February 14, 2025 at 8:29 PM
If you’re ethnically Irish, you’re more likely to have Galactosemia. That doesn’t make being Irish a disorder. If you’re autistic, you’re more likely to have things like anxiety, autoimmune conditions, allergies, GI issues, etc but that doesn’t make autism a disorder.
n aguento mais as pessoas zoando meu sanduiche que consistem em pão, margarina e goiabada 😔
eu tenho galactosemia desde pequena e quando fui diagnosticada nenhum produto tinha escrito CONTÉM LACTOSE aí na duvida eu n comia nada de doce diferente então me apaixonei por goiabada
eu tenho galactosemia desde pequena e quando fui diagnosticada nenhum produto tinha escrito CONTÉM LACTOSE aí na duvida eu n comia nada de doce diferente então me apaixonei por goiabada
October 4, 2025 at 12:43 PM
n aguento mais as pessoas zoando meu sanduiche que consistem em pão, margarina e goiabada 😔
eu tenho galactosemia desde pequena e quando fui diagnosticada nenhum produto tinha escrito CONTÉM LACTOSE aí na duvida eu n comia nada de doce diferente então me apaixonei por goiabada
eu tenho galactosemia desde pequena e quando fui diagnosticada nenhum produto tinha escrito CONTÉM LACTOSE aí na duvida eu n comia nada de doce diferente então me apaixonei por goiabada
foda q uma das coisas q eu mais amo fazer é COMER experimentar COMIDAS e simplesmente meu corpo decidiu que vai DOER se eu comer, não bastasse galactosemia e intolerância a lactose agora td e qqr coisa DOR
perdi 8kg em questão de 5 meses
perdi 8kg em questão de 5 meses
April 7, 2025 at 12:49 PM
foda q uma das coisas q eu mais amo fazer é COMER experimentar COMIDAS e simplesmente meu corpo decidiu que vai DOER se eu comer, não bastasse galactosemia e intolerância a lactose agora td e qqr coisa DOR
perdi 8kg em questão de 5 meses
perdi 8kg em questão de 5 meses