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- Improvement of movement disorder and neurodevelopment under selegiline . . .
Objective: We report the significative improvement on both movement disorder and neurodevelopment in a 5-year-old CLTC deficient patient treated with selegiline Background: In 2019 we described a 30-year-old woman harbouring the p Pro890Leu aminoacid substitution in CLTC, who presented with intellectual disability and early-onset parkinsonism associated with low levels of homovanillic and 5
- Medications and Glucose-6-Phosphate Dehydrogenase Deficiency
Medications that can probably be given safely in therapeutic dosages to G6PD-deficient patients, including all compounds that were mentioned by any author or source as causing haemolysis in G6PD-deficient patients, but where after careful review of the literature insufficient evidence was found to implicate administration of therapeutic dosages
- Natural killer cell hyporesponsiveness and impaired development in a . . .
This observa-tion is consistent with data from patients undergoing stem cell transplantation (SCT) in whom the first NK cells to repopulate the periphery have an immature phenotype and are less able to mediate cytotoxicity before T-cell recovery 8Interestingly, the ability of peripheral blood NK cells from the CD247-deficient patient to
- Life-threatening toxicity in a dihydropyrimidine dehydrogenase . . .
Abstract In humans, 80-90% of an administered dose of 5-fluorouracil (5-FU) is degraded by dihydropyrimidine dehydrogenase (DPD; EC 1 3 1 2), the initial rate-limiting enzyme in pyrimidine catabolism Cancer patients with decreased DPD activity are at increased risk for severe toxicity including diarrhea, stomatitis, mucositis, myelosuppression, neurotoxicity, and, in some cases, death We now
- Iron Therapy in Patients with Heart Failure and Iron . . . - PubMed
Intravenous iron therapy in iron-deficient patients with HF and reduced ejection fraction has been shown to alleviate HF symptoms and improve exercise capacity and quality of life In this paper, we provide information on how to diagnose ID in HF
- Caring for Glucose-6-Phosphate Dehydrogenase (G6PD)-Deficient Patients . . .
This article explores the basis of glucose-6-phosphate dehydrogenase deficiency and defines the role that health care informatics can play in optimal treatment
- Efficient in vivo editing of OTC-deficient patient-derived primary . . .
In order to reserve precious OTC-deficient patient-derived hepatocytes for critical experiments in the current study, human-specific editing reagents were first evaluated in the murine liver against a novel minigene cassette containing the patient-specific target locus to recapitulate the intracellular environment of bona fide hepatocytes in vivo
- Replication stress, microcephalic primordial dwarfism, and compromised . . .
Ataxia telangiectasia and Rad3-related (ATR) kinase and its interacting protein ATRIP orchestrate the replication stress response Homozygous splice variants in the ATRIP gene, resulting in ATRIP deficiency, were identified in two patients of independent ancestry with microcephaly, primordial dwarfi …
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