نتایج جستجو برای: glutaric aciduria
تعداد نتایج: 1568 فیلتر نتایج به سال:
A 14-month-old boy presented with loss of developmental milestones and tonic spasms following a diarrheal illness. He was born to nonconsanguineous parents and had mild motor delays. Examination was remarkable for macrocephaly, axial hypotonia, and asymmetric dystonic posturing of neck, trunk, and extremities. Brain MRI (figure) and elevated glutaryl carnitine on tandem mass spectroscopy were d...
Ifosfamide is an oxazophosphorine widely used in the treatment of cancer in children and adults. Nephrotoxicity and neurotoxicity are major side effects. The aim of this study was to use high-resolution proton nuclear magnetic resonance (1H NMR) spectroscopy of urine to identify novel biochemical markers of ifosfamide-induced toxicity. Urine samples were collected from 10 nonencephalopathic pat...
Glutaric aciduria type 1 (GA1) arises from an enzymatic block in the common degradation pathway for lysine and tryptophan. It is a cause of crippling striatal necrosis during infancy (Strauss et al., 2003). Clinical experience teaches us two things about GA1. First, predicting precisely when and if basal ganglia injury will occur in an individual is presently difficult, if not impossible. Secon...
The crystal structure of the title co-crystal, C(12)H(9)N(3)·C(5)H(8)O(4), N-H⋯O and O-H⋯N hydrogen bonds link the components. There are also π-π stacking inter-actions between the imidazole rings, between the imidazole and pyridine rings and between the pyridine and benzene rings [centroid-centroid distances = 3.643 (2), 3.573 (2) and 3.740 (1)Å, respectively].
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