Two New Cases of Bachmann–Bupp Syndrome Identified through the International Center for Polyamine Disorders [PDF]
Medical Sciences (Basel, Switzerland), 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 +2 more
exaly +8 more sources
Repurposing With Purpose: Treatment of Bachmann–Bupp Syndrome With Eflornithine and Implications for Other Polyaminopathies [PDF]
American Journal of Medical Genetics, Part C: Seminars in Medical GeneticsABSTRACT Rare 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 ...
Caleb P Bupp +2 more
exaly +8 more sources
Bachmann–Bupp syndrome and treatment [PDF]
Developmental Medicine and Child Neurology, 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
André S Bachmann +2 more
exaly +5 more sources
BuPP: Drei digitale Spiele, die sich mit psychischen Problemen und Krisen auseinandersetzen [PDF]
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 +7 more sources
3 digitale Spiele zum gemeinsam Spielen – empfohlen von der BuPP [PDF]
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 +4 more sources
Monitoring ODC activity and polyamines in Bachmann-Bupp syndrome patient biological samples [PDF]
Methods in EnzymologyPolyamines 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 ...
Chad R Schultz +2 more
exaly +4 more sources
Spielempfehlungen (BuPP): Melbits, Planet Zoo und Love You to Bits
Medienimpulse, 2020 teaser ...
Karina Kaiser-Fallent
doaj +2 more sources
Dilated coronary arteries in a 2-month-old with RIT1-associated Noonan syndrome: a case report [PDF]
BMC Pediatrics, 2023 Background Noonan Syndrome is caused by variants in a variety of genes found in the RAS/MAPK pathway. As more causative genes for Noonan Syndrome have been identified, more phenotype variability has been found, particularly congenital heart defects. Here,
Claudia V. Aniol +6 more
doaj +2 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 +2 more sources
Expanding the phenotype: Four new cases and hope for treatment in Bachmann‐Bupp syndrome
American Journal of Medical Genetics, Part A, 2021 Bachmann-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.
Elizabeth A Vansickle +2 more
exaly +2 more sources