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A human IFNGR1 small deletion hotspot associated with dominant susceptibility to mycobacterial infection
TLDR
A hotspot for human IFNGR1 small deletions that confer dominant susceptibility to infections caused by poorly virulent mycobacteria is reported.
Clinical features of dominant and recessive interferon gamma receptor 1 deficiencies.
TLDR
Recessive complete and dominant partial IFNgammaR1 deficiencies have related clinical phenotypes, but are distinguishable by age at onset, dissemination, and clinical course of mycobacterial diseases.
Cystic fibrosis: comparison of two mucolytic drugs for inhalation treatment (acetylcysteine and arginine hydrochloride).
Clinical, bronchoscopic, spirographic, scintigraphic, and chemical analyses were done in 24 children with cystic fibrosis to assess the mucolytic effects of acetylcysteine inhalations versus
Increased susceptibility of a carrier of X-linked chronic granulomatous disease (CGD) to Aspergillus fumigatus infection associated with age-related skewing of lyonization
TLDR
It is concluded that age-related acquired skewing of the lyonization ratio can result in an increased susceptibility to life-threatening infections in X-CGD carriers.
Glycogen storage disease type Ib
TLDR
Results show that in granulocytes the glucose-6-phosphate-dependent hexosemonophosphate -shunt is impaired and there is no glucose- 6-ph phosphatase activity in vivo.
Impaired metabolic function of polymorphonuclear leukocytes in glycogen storage disease Ib
  • M. Gahr, K. Heyne
  • Medicine, Biology
    European Journal of Pediatrics
  • 1 September 1983
TLDR
It could be speculated that in PMN of patients with GSD Ib, glucose-6-phosphate has no access to the enzymes of the hexose monophosphate shunt due to a transport-related defect as shown for glucogenesis in hepatocytes.
Erroneous diagnosis of fetal alcohol syndrome in a patient with ring chromosome 6
TLDR
A 15-month-old girl displayed the phenotype of fetal alcohol syndrome with short stature, preand postnatal dystrophy, microcephaly, psychomotor retardation and abnormal facial features, and a chromosomal analysis was performed.
Roberts syndrome and SC phocomelia. A single genetic entity
TLDR
These two syndromes are one and the same genetic entity, according to previously published cases of familial Roberts syndrome and SC phocomelia, it is concluded.
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