Action taken upon the detection of sickle cell trait (heterozygous hemoglobinopathy S) in newborn screening in Spain Since 2021, sickle cell disease (SCD) has been included in all 17 neonatal screening programmes in Spain. The carrier state for haemoglobin S (HbS) is…

Actuación frente a la detección de rasgo falciforme (hemoglobinopatía S heterocigota) en el cribado neonatal en España www.sciencedirect.com/science/arti... #hvhebron #malmin #ohp

Diagnosis, treatment, and follow-up of Fabry disease in pediatrics Fabry disease (FD), also known as Anderson-Fabry disease, is a heterogeneous, multisystem lysosomal storage disorder with an X-linked inheritance patt…

Diagnosis, treatment, and follow-up of Fabry disease in pediatrics www.sciencedirect.com/science/arti... #hvhebron #malmin [Text complet]

HELIOS Action: Advancing research, education, and equity in hemoglobinopathies across Europe and beyond Click on the article title to read more.

HELIOS Action: Advancing research, education, and equity in hemoglobinopathies across Europe and beyond onlinelibrary.wiley.com/doi/10.1002/... #hvhebron #malmin [Text complet]

Human, economic, and social impact of lysosomal storage diseases - Orphanet Journal of Rare Diseases Background Lysosomal storage disorders (LSDs) are a group of rare metabolic conditions caused by enzyme deficiencies, leading to the accumulation of macromolecules within lysosomes. These disorders si...

Human, economic, and social impact of lysosomal storage diseases link.springer.com/article/10.1... #hvhebron #malmin [Text complet]

Long‐term effectiveness and safety outcomes in adults with Fabry disease treated with agalsidase alfa: 20 years of data from the Fabry Outcome Survey Long-term treatment with agalsidase alfa in 1864 adults with Fabry disease in the Fabry Outcome Survey confirmed previously reported beneficial effects on renal function and cardiomyopathy. Over a me....

Long-term effectiveness and safety outcomes in adults with #Fabry #disease treated with agalsidase alfa: 20 years of data from the Fabry Outcome Survey onlinelibrary.wiley.com/doi/10.1111/... #hvhebron #malmin [Text complet]

Metabolomics in sickle cell disease: Current knowledge and gaps – A scoping review Sickle cell disease (SCD) has large phenotypic variability. Systematic metabolomic profiling may provide insights into phenotypes and treatment respon…

Metabolomics in sickle cell disease: Current knowledge and gaps – A scoping review www.sciencedirect.com/science/arti... #hvhebron #ohp #malmin [Text complet]

Springar etter Svein P. Eikeland - Tveitaslåtten - Når mitt øie trett av møie Malmin, Åshild Vetrhus · Med Åshild Vetrhus · Song · 2025

🇺🇦 #NowPlaying on BBC #Radio3's #LateJunction

Malmin:
🎵 Springar etter Svein P. Eikeland - Tveitaslåtten - Når mitt øie trett av møie

#BBCRadio3 #Malmin


▶️ 🪄 Automagic 🔊 show 📻 playlist on Spotify
▶️ Track on #Spotify:

Clinical Efficacy and Real-World Effectiveness of Fabry Disease Treatments: A Systematic Literature Review www.mdpi.com/2077-0383/14... #hvhebron #malmin [Text complet]

Hullaspringar, by Malmin from the album Med Åshild Vetrhus

🇺🇦 #NowPlaying on #BBC6Music's #StuartMaconiesFreakZone

Malmin:
🎵 Hullaspringar (feat. Åshild Vetrhus)

#6music #Malmin

▶️ 🪄 Automagic 🔊 show 📻 playlist on Spotify

▶️ Song on #Bandcamp:

Current status of the immunogenicity of enzyme replacement therapy in fabry disease - Orphanet Journal of Rare Diseases In patients with Fabry disease (FD), treatment with enzyme replacement therapy (ERT), may trigger the formation of anti-drug antibodies (ADAs). The consequences of this immune reaction range from the ...

Current status of the immunogenicity of enzyme replacement therapy in fabry disease ojrd.biomedcentral.com/articles/10.... #hvhebron #malmin #medint [Text complet]

Malmin – Med Åshild Vetrhus (2025) A new Norwegian folk label, Krets, arrives with an arresting debut release – an “anarchistic” set of songs, dances, ballads and psalms from the rugged south-western county of Rogaland. Malmin, a duo of experimental musician Anders Hana and folk-rock and cajun-pop instrumentalist Olav Christer Rossebø, write in their album’s liner notes of the Rogaland elders […]

Two decades of experience of the Fabry Outcome Survey provides further confirmation of the long-term effectiveness of agalsidase alfa enzyme replacement therapy Analyses of up to 20 years of data from the Fabry Outcome Survey (FOS) assessed the long-term effectiveness of agalsidase alfa enzyme replacement ther…

Two decades of experience of the Fabry Outcome Survey provides further confirmation of the long-term effectiveness of agalsidase alfa enzyme replacement therapy www.sciencedirect.com/science/arti... #hvhebron #malmin [Text complet]

Safety analysis of self-administered enzyme replacement therapy using data from the Fabry Outcome and Gaucher Outcome Surveys - Orphanet Journal of Rare Diseases Background Fabry disease and Gaucher disease are rare genetic disorders characterized by defective degradation of glycosphingolipids caused by enzymatic deficiencies in α–galactosidase A and β–glucoce...

Safety analysis of self-administered enzyme replacement therapy using data from the Fabry Outcome and Gaucher Outcome Surveys ojrd.biomedcentral.com/articles/10.... #hvhebron #malmin [Text complet]

Man fandt jo dette Himmelsind, by Malmin from the album Med Åshild Vetrhus

🇺🇦 #NowPlaying on #BBC6Music's #NewMusicFix

Malmin & Åshild Vetrhus:
🎵 Man fandt jo dette Himmelsind

#6music #Malmin #ÅshildVetrhus

▶️ 🪄 Automagic 🔊 show 📻 playlist on Spotify

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Vinjavalsen - Halling etter Olav Bråtveit, by Malmin from the album Med Åshild Vetrhus

🇺🇦 #NowPlaying on #BBC6Music's #StuartMaconiesFreakZone

Malmin:
🎵 Vinjavalsen

#6music #Malmin
#newRelease - 🆕 album

▶️ 🆕🪄 Automagic 📻 playlist: 👉 New releases played on #Radio6Music 👈

▶️ Song on #Bandcamp: