Patricia Greenstein

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Classic galactosemia is an autosomal recessive disorder due to galactose-1-phosphate uridyltransferase (GALT) deficiency. Newborn screening and early treatment do not completely prevent tremor, speech deficits, and diminished IQ in both sexes and premature ovarian insufficiency (POI) in women. Data on how individuals with galactosemia fare as adults will(More)
OBJECTIVE To elucidate the molecular basis of a mitochondrial myopathy associated with recurrent myoglobinuria and cytochrome c oxidase (COX) deficiency in muscle. BACKGROUND Recurrent myoglobinuria is typically seen in patients with inborn errors of carbohydrate or lipid metabolism, the main sources of energy for muscle contraction. Relatively little(More)
We describe the appearance of left hemineglect and striking cataleptic posturing, more prominent in left-sided extremities, in a patient without psychiatric illness. Neuroimaging demonstrated a large posterior right hemisphere infarct involving the parietal, occipital, and temporal lobes, the insula, and caudate. Additional movement abnormalities that(More)
We present the pathology and molecular genetic analysis of an infant with congenital myotonic dystrophy. The proband/infant, born at 35 weeks' gestational age to a mother with myotonic dystrophy and 750 CTG repeats, was markedly hypotonic and had severe cardiomyopathy. She died after 16 days of life. At autopsy, skeletal and heart muscles were immature and(More)
We describe an unusual case of cerebral intravascular lymphomatosis wherein the patient presented with multiple embolic strokes predominantly in the posterior circulation. Using this case as an illustration, we review the literature of this malignancy, which consists of extranodal diffuse large B-cell lymphoma. For patients (More)
Human parotid saliva collected from Stenson's duct during sour candy-stimulated salivation was studied by crossed immunoelectrophoresis (X-IEP). Eleven antigens were identified in a pool of salivas from 10 adult, caucasoid males and females. Four were related to serum antigens, three being previously known: IgG, IgA and albumin. The fourth was identified as(More)
INTRODUCTION Researchers hypothesized that in phenylketonuria (PKU) high brain phenylalanine (Phe) levels and low brain tyrosine (Tyr) levels affect neuropsychological functioning. However, traditional magnetic resonance spectroscopy (MRS) yielded uncertain results of brain Phe and could not adequately measure brain Tyr. This pilot study examined the(More)
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