Search Results - "Kaler, SG"

Diagnosis and therapy of Menkes syndrome, a genetic form of copper deficiency by Kaler, SG

“…In the 25 y since copper deficiency was first delineated in persons with Menkes syndrome, advances in our understanding of the clinical, biochemical, and…”
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Favorably skewed X-inactivation accounts for neurological sparing in female carriers of Menkes disease by Desai, V, Donsante, A, Swoboda, KJ, Martensen, M, Thompson, J, Kaler, SG

“…Desai V, Donsante A, Swoboda KJ, Martensen M, Thompson J, Kaler SG. Favorably skewed X‐inactivation accounts for neurological sparing in female carriers of…”
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Prenatal diagnostic conundrum involving a novel ATP7A duplication by Schoonveld, C, Donsante, A, del Gaudio, D, Waggoner, D, Das, S, Kaler, SG

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Non-random maternal X-chromosome inactivation associated with PHACES by Levin, JH, Kaler, SG

“…The acronym PHACES is used to describe the association of posterior fossa malformations, hemangiomas, arterial anomalies (cardiovascular or cerebrovascular),…”
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Copper-replacement treatment for symptomatic Menkes disease: ethical considerations by Sheela, SR, Latha, M, Liu, P, Lem, K, Kaler, SG

“…We describe a child with classical Menkes disease with a novel ATP7A mutation, intractable seizures, severe hypotonia and developmental delay, hypopigmentation…”
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Downregulation of myelination, energy, and translational genes in Menkes disease brain by Liu, Po-Ching, Chen, Yi-Wen, Centeno, Jose A., Quezado, Martha, Lem, Kristen, Kaler, Stephen G.

“…Menkes disease (MD) is an X-linked recessive neurodegenerative disorder caused by mutations in a copper-transporting p-type ATPase (ATP7A) that normally…”
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Severe bilateral panlobular emphysema and pulmonary arterial hypoplasia: Unusual manifestations of Menkes disease by Grange, Dorothy K., Kaler, Stephen G., Albers, Gary M., Petterchak, James A., Thorpe, Connie M., deMello, Daphne E.

“…Menkes disease is an X‐linked recessive disorder of copper transport characterized by neurological deterioration, connective tissue, and vascular defects,…”
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Metabolic and molecular bases of Menkes disease and occipital horn syndrome by Kaler, S G

“…Menkes disease and occipital horn syndrome (OHS) are related disorders of copper transport that involve abnormal neurodevelopment, connective tissue problems,…”
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Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus by Kaler, Stephen G, Gallo, Linda K, Proud, Virginia K, Percy, Alan K, Mark, Yvonne, Segal, Neil A, Goldstein, David S, Holmes, Courtney S, Gahl, William A

“…We have found mutations in the Menkes disease gene (MNK) which impair, but do not abolish, correct mRNA splicing in patients with less severe clinical…”
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Menkes' syndrome: ophthalmic findings by Gasch, Alice T, Caruso, Rafael C, Kaler, Stephen G, Kaiser-Kupfer, Muriel

“…To report the prevalence and clinical significance of ocular findings in 20 patients with Menkes' syndrome recruited for a clinical trial at the National…”
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Menkes disease mutations and response to early copper histidine treatment by Kaler, Stephen G

“…I read with interest the correspondence item by Tumer et al. regarding early copper histidine treatment for Menkes disease. They report favorable clinical…”
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Mutation in the leucine-rich repeat C-flanking region of platelet glycoprotein Ib beta impairs assembly of von Willebrand factor receptor by Tang, Jingrong, Stern-Nezer, Sara, Liu, Po-Ching, Matyakhina, Ludmila, Riordan, Michael, Luban, Naomi L C, Steinbach, Peter J, Kaler, Stephen G

“…We describe a syndrome of thrombocytopenia, bleeding episodes, congenital heart disease and facial dysmorphism in a newborn infant, and trace the cause to…”
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Genotyping of Two Mutations in the HFE Gene Using Single-Base Extension and High-Performance Liquid Chromatography by Devaney, Joseph M, Pettit, Elizabeth L, Kaler, Stephen G, Vallone, Peter M, Butler, John M, Marino, Michael A

“…Currently, a major focus of human genetics is the utilization of single-nucleotide polymorphisms for clinical diagnostics, whole-genome linkage disequilibrium…”
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Early copper therapy in classic Menkes disease patients with a novel splicing mutation by Kaler, S G, Buist, N R, Holmes, C S, Goldstein, D S, Miller, R C, Gahl, W A

“…To correlate genotype with response to early copper histidine therapy in Menkes disease, an X-linked disorder of copper transport, we performed mutational…”
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Plasma and cerebrospinal fluid neurochemical pattern in Menkes disease by Kaler, S G, Goldstein, D S, Holmes, C, Salerno, J A, Gahl, W A

“…Menkes disease is a neurodegenerative disorder of copper metabolism. Because the enzyme dopamine-beta-hydroxylase requires copper to catalyze the conversion of…”
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Prenatal diagnosis of Menkes disease by Kaler, Stephen G., Tümer, Zeynep

“…Menkes disease (MD) is an X-linked recessive neurodegenerative disorder produced by defects in a gene (ATP7 A) that encodes an intracellular…”
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Catecholamine phenotyping: clues to the diagnosis, treatment, and pathophysiology of neurogenetic disorders by Goldstein, D S, Lenders, J W, Kaler, S G, Eisenhofer, G

“…One purpose of clinical neurochemistry has been to indicate "activities" of catecholamine systems, by assaying levels of the effector compounds or their…”
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Menkes disease by Gasch, A T, Kaler, S G, Kaiser-Kupfer, M

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Menkes disease and occipital horn syndrome by Kaler, S G

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Swallowing Dysfunction in Nephropathic Cystinosis by Sonies, Barbara C, Ekman, Evan F, Andersson, Hans C, Adamson, Megan D, Kaler, Stephen G, Markello, Thomas C, Gahl, William A

“…NEPHROPATHIC cystinosis is a lysosomal storage disease in which cystine accumulates intracellularly in many tissues, including the kidney. Renal failure…”
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