Search Results - "BRENINGSTALL, G"

Analysis of a very large trinucleotide repeat in a patient with juvenile Huntington's disease by NANCE, M. A, MATHIAS-HAGEN, M. V, BRENINGSTALL, M. G, WICK, M. M. J, MCGLENNEN, R. C

“…A patient with juvenile Huntington's disease (HD) of probable maternal inheritance is reported. The expanded IT-15 allele was only detected with the use of…”
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Breath-holding spells by Breningstall, Galen N.

“…Two particularly common, and frequently frightening, forms of syncope and anoxic seizure in early childhood are pallid and cyanotic breath-holding spells…”
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Familial carnitine transporter defect: A treatable cause of cardiomyopathy in children by Pierpont, Mary Ella M, Breningstall, Galen N, Stanley, Charles A, Singh, Amarjit

“…Carnitine transporter defect is characterized by severely reduced transport of carnitine into skeletal muscle, fibroblasts, and renal tubules. All children…”
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Bilateral periventricular nodular heterotopia with mental retardation and syndactyly in boys: A new X-linked mental retardation syndrome by DOBYNS, W. B, GUERRINI, R, CZAPANSKY-BEILMAN, D. K, PIERPONT, M. E. M, BRENINGSTALL, G, YOCK, D. H, BONANNI, P, TRUWIT, C. L

“…Bilateral periventricular nodular heterotopia (BPNH) is a recently recognized malformation of neuronal migration, and perhaps proliferation, in which nodular…”
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Intrauterine subdural hematoma by BRENINGSTALL, G. N, PATTERSON, R. J

“…A patient with neonatal macrocephaly due to bilateral chronic subdural hematoma is presented. There was no history of intrauterine trauma or coagulopathy. Such…”
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Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake by Stanley, C A, DeLeeuw, S, Coates, P M, Vianey-Liaud, C, Divry, P, Bonnefont, J P, Saudubray, J M, Haymond, M, Trefz, F K, Breningstall, G N

“…A defect in intracellular uptake of carnitine has been identified in patients with severe carnitine deficiency. To define the clinical manifestations of this…”
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Mortality in pediatric epilepsy by Breningstall, Galen N

“…Mortality in pediatric epilepsy is the subject of this review. Epilepsy in both adults and children increases the risk of premature death. Conditions that are…”
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Gelastic seizures, precocious puberty, and hypothalamic hamartoma by BRENINGSTALL, G. N

“…The concurrence of gelastic (laughing) seizures and precocious puberty has been reported in 18 patients, including 2 described here. At least 10 patients had…”
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Acute transverse myelitis and brainstem encephalitis associated with hepatitis A infection by Breningstall, Galen N., Belani, Kiran K.

“…A 4-year-old boy became paraplegic during the course of hepatitis A infection. There were significant magnetic resonance imaging changes in the cervical spinal…”
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Acute or Subacute Cranial Computed Tomography Findings in Patients with Congenital Lactic Acidemia by Breningstall, Galen N.

“…Two patients with congenital lactic acidemia of unknown etiology developed striking and extensive cranial computed tomography abnormalities of acute or…”
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An 11-year-old girl with syndrome of inappropriate antidiuretic hormone secretion by Breningstall, Galen N., Bell, William E.

“…An 11-year-old girl presented with a syndrome of inappropriate antidiuretic hormone secretion, which was transitory and, initially, of obscure origin…”
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An adolescent with complicated migraine by Breningstall, Galen N., Levine, Ross L.

“…During an evaluation for complicated migraine, a 14-year-old adolescent female was found to have a left frontoparietal cortical infarction on magnetic…”
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Pseudo valproate-induced hypofibrinogenemia by Breningstall, Galen N., Cich, John A.

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Approach to diagnosis of oxidative metabolism disorders by Breningstall, G N

“…Mitochondrial oxidation of a variety of substrates produces the bulk of energy requirements for most cell types. Impairment of oxidative metabolism may result…”
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Carnitine deficiency syndromes by Breningstall, G N

“…Carnitine deficiency syndromes manifest as metabolic encephalopathy, lipid storage myopathy, or cardiomyopathy. Impairment of long-chain fatty acid metabolism…”
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Hydrosyringomyelia and diastematomyelia detected by MRI in myelomeningocele by Breningstall, G N, Marker, S M, Tubman, D E

“…Magnetic resonance imaging of the spine in 45 patients with myelomeningocele revealed hydrosyringomyelia in 24 and diastematomyelia in two. No patient at…”
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Chronic compulsive foot rubbing by Breningstall, G N, Nagib, M G

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Magnetic resonance imaging in a patient with I-cell disease by Breningstall, G N, Tubman, D E

“…Autopsy reports in I-cell disease patients describe no salient abnormality of central nervous system morphology. Magnetic resonance imaging of the cranium in a…”
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Movement disorders in bacterial meningitis by Burstein, L, Breningstall, G N

“…Movement disorders developed in five children, ages 6 to 21 months, during the course of bacterial meningitis caused by Hemophilus influenzae (one),…”
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Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia by Kure, Shigeo, Kato, Kumi, Dinopoulos, Agirios, Gail, Chuck, deGrauw, Ton J., Christodoulou, John, Bzduch, Vladimir, Kalmanchey, Rozalia, Fekete, Gyorgy, Trojovsky, Alex, Plecko, Barbara, Breningstall, Galen, Tohyama, Jun, Aoki, Yoko, Matsubara, Yoichi

“…Nonketotic hyperglycinemia (NKH) is an inborn error of metabolism characterized by accumulation of glycine in body fluids and various neurological symptoms…”
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