Search Results - "Weisfeld‐Adams, James D."

Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency by Huemer, Martina, Diodato, Daria, Schwahn, Bernd, Schiff, Manuel, Bandeira, Anabela, Benoist, Jean-Francois, Burlina, Alberto, Cerone, Roberto, Couce, Maria L., Garcia-Cazorla, Angeles, la Marca, Giancarlo, Pasquini, Elisabetta, Vilarinho, Laura, Weisfeld-Adams, James D., Kožich, Viktor, Blom, Henk, Baumgartner, Matthias R., Dionisi-Vici, Carlo

“…Background Remethylation defects are rare inherited disorders in which impaired remethylation of homocysteine to methionine leads to accumulation of…”
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Clinical and molecular characterization of chromosome 7p22.1 microduplication detected by array CGH by Chui, Jacqueline V., Weisfeld‐Adams, James D., Tepperberg, James, Mehta, Lakshmi

“…A 28‐month‐old Peruvian male presented with speech delay and unusual facial features including prominent forehead, anteverted nares, ocular hypertelorism, and…”
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Clinical phenotype, biochemical profile, and treatment in 19 patients with arginase 1 deficiency by Huemer, Martina, Carvalho, Daniel R., Brum, Jaime M., Ünal, Özlem, Coskun, Turgay, Weisfeld-Adams, James D., Schrager, Nina L., Scholl-Bürgi, Sabine, Schlune, Andrea, Donner, Markus G., Hersberger, Martin, Gemperle, Claudio, Riesner, Brunhilde, Ulmer, Hanno, Häberle, Johannes, Karall, Daniela

“…Background Arginase 1 (ARG1) deficiency is a rare urea cycle disorder (UCD). This hypothesis-generating study explored clinical phenotypes, metabolic profiles,…”
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Lethal neonatal hyperammonemia in severe ornithine transcarbamylase (OTC) deficiency compounded by large hepatic portosystemic shunt by Beard, Lauren, Wymore, Erica, Fenton, Laura, Coughlin, Curtis R., Weisfeld-Adams, James D.

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Co-occurrence of the Poland sequence in a patient with the cobalamin C defect: more than just a coincidence? by Weisfeld-Adams, James D., Baker, Peter R.

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Rapid resolution of infantile lipemia retinalis following exchange transfusion by Capitena, Cara E., Wagoner, Holly J., Ruzas, Christopher M., Bennett, Tellen D., Baker, Peter R., Jung, Jennifer L., Weisfeld-Adams, James D.

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A de novo 2.78-Mb duplication on chromosome 21q22.11 implicates candidate genes in the partial trisomy 21 phenotype by Weisfeld-Adams, James D, Tkachuk, Amanda K, Maclean, Kenneth N, Meeks, Naomi L, Scott, Stuart A

“…Down syndrome (DS) is the most common genetic cause of intellectual disability (ID) and in the majority of cases is the result of complete trisomy 21. The…”
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The Abyss by Weisfeld-Adams, James D

“…When a 27-year-old resident suddenly finds that his right hand has a peculiar tremor, a vague heaviness waxes and wanes in his right arm and leg, and his…”
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Vincristine sulfate as a possible cause of optic neuropathy by Weisfeld-Adams, James D., Dutton, Gordon N., Murphy, Dermot M.

“…A 6‐year‐old boy with skin lesions suggestive of neurofibromatosis developed a frontotemporal primitive neuroectodermal tumor and was subsequently treated with…”
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Ocular disease in the cobalamin C defect: A review of the literature and a suggested framework for clinical surveillance by Weisfeld-Adams, James D., McCourt, Emily A., Diaz, George A., Oliver, Scott C.

“…The association between combined methylmalonic acidemia and homocystinuria of cblC type (cobalamin C defect, cblC) and ocular disease is now well recognized,…”
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De novo and inherited SCN8A epilepsy mutations detected by gene panel analysis by Butler, Kameryn M, Silva, Cristina da, Shafir, Yuval, Weisfeld-Adams, James D, Alexander, John J, Hegde, Madhuri, Escayg, Andrew

“…Highlights • Five SCN8A variants were identified in individuals with severe and mild epilepsy. • Variation in SCN8A may contribute to neurodevelopmental…”
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ASL expression in ALDH1A1+ neurons in the substantia nigra metabolically contributes to neurodegenerative phenotype by Lerner, Shaul, Eilam, Raya, Adler, Lital, Baruteau, Julien, Kreiser, Topaz, Tsoory, Michael, Brandis, Alexander, Mehlman, Tevie, Ryten, Mina, Botia, Juan A., Ruiz, Sonia Garcia, Garcia, Alejandro Cisterna, Dionisi-Vici, Carlo, Ranucci, Giusy, Spada, Marco, Mazkereth, Ram, McCarter, Robert, Izem, Rima, Balmat, Thomas J., Richesson, Rachel, Gazit, Ehud, Nagamani, Sandesh C. S., Erez, Ayelet

“…Argininosuccinate lyase (ASL) is essential for the NO-dependent regulation of tyrosine hydroxylase (TH) and thus for catecholamine production. Using a…”
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Differential diagnosis of Mendelian and mitochondrial disorders in patients with suspected multiple sclerosis by Weisfeld-Adams, James D, Katz Sand, Ilana B, Honce, Justin M, Lublin, Fred D

“…Several single gene disorders share clinical and radiologic characteristics with multiple sclerosis and have the potential to be overlooked in the differential…”
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Neurologic and neurodevelopmental phenotypes in young children with early-treated combined methylmalonic acidemia and homocystinuria, cobalamin C type by Weisfeld-Adams, James D., Bender, H. Allison, Miley-Åkerstedt, Anna, Frempong, Tamiesha, Schrager, Nina L., Patel, Keyur, Naidich, Thomas P., Stein, Victoria, Spat, Jessica, Towns, Stephanie, Wasserstein, Melissa P., Peter, Inga, Frank, Yitzchak, Diaz, George A.

“…Abnormal neurodevelopment has been widely reported in combined methylmalonic aciduria (MMA) and homocystinuria, cblC type (cblC disease), but…”
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Biochemical signatures mimicking multiple carboxylase deficiency in children with mutations in MT-ATP6 by Larson, Austin A, Balasubramaniam, Shanti, Christodoulou, John, Burrage, Lindsay C, Marom, Ronit, Graham, Brett H, Diaz, George A, Glamuzina, Emma, Hauser, Natalie, Heese, Bryce, Horvath, Gabriella, Mattman, Andre, van Karnebeek, Clara, Lane Rutledge, S, Williamson, Amy, Estrella, Lissette, Van Hove, Johan K L, Weisfeld-Adams, James D

“…Elevations of specific acylcarnitines in blood reflect carboxylase deficiencies, and have utility in newborn screening for life-threatening organic acidemias…”
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Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte by Weisfeld-Adams, James D., Morrissey, Mark A., Kirmse, Brian M., Salveson, Bobbie R., Wasserstein, Melissa P., McGuire, Peter J., Sunny, Sherlykutty, Cohen-Pfeffer, Jessica L., Yu, Chunli, Caggana, Michele, Diaz, George A.

“…Combined methylmalonic aciduria and homocystinuria, cobalamin C (cblC) type, is an inherited disorder of vitamin B 12 metabolism caused by mutations in MMACHC…”
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Impact of tumor location and pathological discordance on survival of children with midline high-grade gliomas treated on Children’s Cancer Group high-grade glioma study CCG-945 by Eisenstat, David D., Pollack, Ian F., Demers, Alain, Sapp, Mark V., Lambert, Pascal, Weisfeld-Adams, James D., Burger, Peter C., Gilles, Floyd, Davis, Richard L., Packer, Roger, Boyett, James M., Finlay, Jonathan L.

“…Children with high-grade glioma (HGG) have a poor prognosis compared to those with low-grade glioma (LGG). Adjuvant chemotherapy may be beneficial, but its…”
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Optic neuropathy in late-onset neurodegenerative Chédiak-Higashi syndrome by Desai, Ninad, Weisfeld-Adams, James D, Brodie, Scott E, Cho, Catherine, Curcio, Christine A, Lublin, Fred, Rucker, Janet C

“…The classic form of Chédiak-Higashi syndrome (CHS), an autosomal recessive disorder of lysosomal trafficking with childhood onset caused by mutations in…”
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Phenotypic heterogeneity in a family with a small atypical microduplication of chromosome 22q11.2 involving TBX1 by Weisfeld-Adams, James D, Edelmann, Lisa, Gadi, Inder K, Mehta, Lakshmi

“…Abstract The chromosome 22q11.2 region is commonly involved in non-allelic homologous recombination (NAHR) events. Microduplications of 22q11.2, usually…”
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Are asymptomatic carriers of OTC deficiency always asymptomatic? A multicentric retrospective study of risk using the UCDC longitudinal study database by Sen, Kuntal, Izem, Rima, Long, Yuelin, Jiang, Jiji, Konczal, Laura L., McCarter, Robert J., Mew, Nicholas Ah, Baumgartner, Matthias R., Berry, Gerard, Berry, Susan A., Burgard, Peter, Burrage, Lindsay C., Cederbaum, Stephen, Coughlin, Curtis, Diaz, George A., Enns, Gregory, Gallagher, Renata C., Harding, Cary O., Hoffmann, Georg F., Le Mons, Cynthia, McCandless, Shawn E., Merritt, J. Lawrence, Nagamani, Sandesh C. S., Schulze, Andreas, Seminara, Jennifer, Stricker, Tamar, Tuchman, Mendel, Waisbren, Susan, Weisfeld‐Adams, James D., Wong, Derek, Yudkoff, Marc, Gropman, Andrea L., Bedoyan, Jirair K.

“…Background Ornithine transcarbamylase deficiency (OTCD) due to an X‐linked OTC mutation, is responsible for moderate to severe hyperammonemia (HA) with…”
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