Bachmann-Bupp syndrome and treatment. [PDF]
Dev Med Child Neurol, 2023 AbstractBachmann–Bupp syndrome (BABS) is a neurodevelopmental disorder characterized by developmental delay, hypotonia, and varying forms of non‐congenital alopecia. The condition is caused by 3′‐end mutations of the ornithine decarboxylase 1 (ODC1) gene, which produce carboxy (C)‐terminally truncated variants of ODC, a pyridoxal 5′‐phosphate‐dependent
Bachmann AS +4 more
europepmc +5 more sources
Two New Cases of Bachmann–Bupp Syndrome Identified through the International Center for Polyamine Disorders [PDF]
Medical Sciences, 2023 Recent identification of four additional polyaminopathies, including Bachmann–Bupp syndrome, have benefited from previous research on Snyder–Robinson syndrome in order to advance from research to treatment more quickly.
Julianne Michael +13 more
doaj +5 more sources
Expanding the phenotype: Four new cases and hope for treatment in Bachmann-Bupp syndrome. [PDF]
Am J Med Genet A, 2021 AbstractBachmann‐Bupp syndrome (BABS) is a rare syndrome caused by gain‐of‐function variants in the C‐terminus of ornithine decarboxylase (ODC coded by the ODC1 gene). BABS is characterized by developmental delay, macrocephaly, macrosomia, and an unusual pattern of non‐congenital alopecia.
VanSickle EA +10 more
europepmc +6 more sources
Musik in digitalen Spielen – zwei Spiele mit (Mehr)Wert
Medienimpulse, 2019 Die beiden digitalen Spiele Wandersong und Songbird Symphony bieten die Möglichkeit, sich auf musikalische Weise mit gesellschaftlichen Themen wie „gewaltfreie Konfliktlösung“ und „Mobbing/Anders sein“ auseinanderzusetzen.
Karina Kaiser-Fallent
doaj +6 more sources
Correction to "Expanding the phenotype: Four new cases and hope for treatment in Bachmann-Bupp syndrome". [PDF]
Am J Med Genet A, 2023 In the originally published article, Table 1 contained the variant c.1342A>G. This variant should have been 1342A>T. We apologize for this error. Reference VanSickle, E. A., Michael, J., Bachmann, A. S., Rajasekaran, S., Prokop, J.
europepmc +3 more sources
Spielempfehlungen (BuPP): Melbits, Planet Zoo und Love You to Bits
Medienimpulse, 2020 teaser ...
Karina Kaiser-Fallent
doaj +3 more sources
Monitoring ODC activity and polyamines in Bachmann-Bupp syndrome patient biological samples. [PDF]
Methods EnzymolPolyamines are aliphatic molecules that include putrescine, spermidine, and spermine. Polyamines are present in most living organisms including humans. These positively charged molecules play important roles in cell physiology and pathology by contributing to embryonic cell development, regulation of cell division and, if overproduced, the stimulation ...
Schultz CR +3 more
europepmc +4 more sources
Breaking Barriers to Rapid Whole Genome Sequencing in Pediatrics: Michigan’s Project Baby Deer [PDF]
Children, 2023 The integration of precision medicine in the care of hospitalized children is ever evolving. However, access to new genomic diagnostics such as rapid whole genome sequencing (rWGS) is hindered by barriers in implementation.
Caleb P. Bupp +14 more
doaj +3 more sources
Impact of structure and formulation changes on the function of insulin products [PDF]
Frontiers in EndocrinologyInsulin has played an important role in the treatment of diabetes since its discovery in the early 1920s. Initially derived from animal sources, insulin production underwent significant changes with the advent of recombinant DNA technology, allowing for ...
YeonJin Yang +4 more
doaj +3 more sources
Donor telomeres and their magnitude of shortening post-allogeneic haematopoietic cell transplant impact survival for patients with early-stage leukaemia or myelodysplastic syndromeResearch in context [PDF]
EBioMedicineSummary: Background: Donor selection is a key success factor in allogeneic haematopoietic cell transplant (HCT). We evaluated the potential impact of donor leucocyte telomere length (LTL) and LTL shortening in recipients at three-month post-HCT (LTL-3MS)
Shahinaz M. Gadalla +15 more
doaj +3 more sources