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 +6 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 +6 more sources
Repurposing With Purpose: Treatment of Bachmann-Bupp Syndrome With Eflornithine and Implications for Other Polyaminopathies. [PDF]
Am J Med Genet C Semin Med GenetABSTRACTRare diseases impact approximately 1 in 10 people worldwide, and yet, less than 5% of all rare diseases currently have an approved treatment option available. This is due to many challenges unique to rare diseases, including small, diverse patient populations, the cost of drug development that is not proportionate to the number of patients who ...
Bupp CP +7 more
europepmc +6 more sources
Spielempfehlungen (BuPP): Melbits, Planet Zoo und Love You to Bits
Medienimpulse, 2020 teaser ...
Karina Kaiser-Fallent
doaj +3 more sources
3 digitale Spiele zum gemeinsam Spielen – empfohlen von der BuPP
Medienimpulse, 2021 Im Folgenden werden drei digitale Spiele vorgestellt, die von der „BuPP – Bundesstelle für die Positivprädikatisierung von digitalen Spielen“ empfohlen wurden. Die BuPP ist eine Einrichtung des Bundeskanzleramts, Sektion Familie und Jugend.
Karina Kaiser-Fallent
doaj +3 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
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
Correction to "Expanding the phenotype: Four new cases and hope for treatment in Bachmann-Bupp syndrome". [PDF]
Am J Med Genet A, 2023 europepmc +4 more sources
Validación de la versión breve en español de la Escala UPPS-P de impulsividad para niños y adolescentes (BUPPS-P NA) [PDF]
Revista de Psicopatología y Psicología Clínica, 2020 Validation of the Spanish version of the brief UPPS-P Impulsivity Scale for children and adolescents (BUPPS-P NA)Abstract: The Scale of Impulsivity for Children and Adolescents (UPPS-P NA) is a self-report instrument that assesses the impulsivity trait in children and adolescents. However, the UPPS-P NA does not have a short version in Spanish.
Florencia Caneto +3 more
openalex +3 more sources
BuPP: Drei digitale Spiele, die sich mit psychischen Problemen und Krisen auseinandersetzen
Medienimpulse, 2022 Im Folgenden werden drei digitale Spiele vorgestellt, die von der „BuPP – Bundesstelle für die Positivprädikatisierung von digitalen Spielen“ empfohlen wurden. Die BuPP ist eine Einrichtung des Bundeskanzleramts, Sektion Familie und Jugend.
Karina Kaiser-Fallent
doaj +2 more sources