Analysis of HGD Gene Mutations in Patients with Alkaptonuria from the United Kingdom: Identification of Novel Mutations
Usher, Jeannette L., Ascher, David B., Pires, Douglas E. V., Milan, Anna M., Blundell, Tom L., Ranganath, Lakshminarayan R.
Published in JIMD reports (01.01.2015)
Published in JIMD reports (01.01.2015)
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Nitisinone Arrests but Does Not Reverse Ochronosis in Alkaptonuric Mice
Keenan, Craig M, Preston, Andrew J, Sutherland, Hazel, Wilson, Peter J, Psarelli, Eftychia E, Cox, Trevor F, Ranganath, Lakshminarayan R, Jarvis, Jonathan C, Gallagher, James A
Published in JIMD reports (01.01.2015)
Published in JIMD reports (01.01.2015)
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The Pigment in Alkaptonuria Relationship to Melanin and Other Coloured Substances: A Review of Metabolism, Composition and Chemical Analysis
Roberts, N. B., Curtis, S. A., Milan, A. M., Ranganath, L. R.
Published in JIMD reports (01.01.2015)
Published in JIMD reports (01.01.2015)
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Relationship Between Serum Concentrations of Nitisinone and Its Effect on Homogentisic Acid and Tyrosine in Patients with Alkaptonuria
Olsson, Birgitta, Cox, Trevor F, Psarelli, Eftychia E, Szamosi, Johan, Hughes, Andrew T, Milan, Anna M, Hall, Anthony K, Rovensky, Jozef, Ranganath, Lakshminarayan R
Published in JIMD reports (01.01.2015)
Published in JIMD reports (01.01.2015)
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Clinical Findings and Natural History in Ten Unrelated Families with Juvenile and Adult GM1 Gangliosidosis
Kannebley, João Stein, Silveira-Moriyama, Laura, Bastos, Laís Orrico Donnabella, Steiner, Carlos Eduardo
Published in JIMD reports (01.01.2015)
Published in JIMD reports (01.01.2015)
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Novel Genetic Mutations in the First Swedish Patient with Purine Nucleoside Phosphorylase Deficiency and Clinical Outcome After Hematopoietic Stem Cell Transplantation with HLA-Matched Unrelated Donor
Brodszki, Nicholas, Svensson, Maria, van Kuilenburg, André B. P., Meijer, Judith, Zoetekouw, Lida, Truedsson, Lennart, Toporski, Jacek
Published in JIMD reports (01.01.2015)
Published in JIMD reports (01.01.2015)
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Dopamine-Responsive Growth-Hormone Deficiency and Central Hypothyroidism in Sepiapterin Reductase Deficiency
Zielonka, Matthias, Makhseed, Nawal, Blau, Nenad, Bettendorf, Markus, Hoffmann, Georg Friedrich, Opladen, Thomas
Published in JIMD reports (01.01.2015)
Published in JIMD reports (01.01.2015)
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High Incidence of Serologic Markers of Inflammatory Bowel Disease in Asymptomatic Patients with Glycogen Storage Disease Type Ia
Lawrence, Nicole T., Chengsupanimit, Tayoot, Brown, Laurie M., Weinstein, David A.
Published in JIMD reports (01.01.2015)
Published in JIMD reports (01.01.2015)
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Investigating the Robustness and Diagnostic Potential of Extracellular Matrix Remodelling Biomarkers in Alkaptonuria
Genovese, F., Siebuhr, A. S., Musa, K., Gallagher, J. A., Milan, A. M., Karsdal, M. A., Rovensky, J., Bay-Jensen, A. C., Ranganath, L. R.
Published in JIMD reports (01.01.2015)
Published in JIMD reports (01.01.2015)
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Serum GDF15 Levels Correlate to Mitochondrial Disease Severity and Myocardial Strain, but Not to Disease Progression in Adult m.3243A>G Carriers
Koene, Saskia, de Laat, Paul, van Tienoven, Doorlène H., Weijers, Gert, Vriens, Dennis, Sweep, Fred C. G. J., Timmermans, Janneke, Kapusta, Livia, Janssen, Mirian C. H., Smeitink, Jan A. M.
Published in JIMD reports (01.01.2015)
Published in JIMD reports (01.01.2015)
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High Incidence of Biotinidase Deficiency from a Pilot Newborn Screening Study in Minas Gerais, Brazil
Lara, Marilis T., Gurgel-Giannetti, Juliana, Aguiar, Marcos J. B., Ladeira, Roberto V. P., Carvalho, Nara O., del Castillo, Dora M., Viana, Marcos B., Januario, José N.
Published in JIMD reports (01.01.2015)
Published in JIMD reports (01.01.2015)
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A Novel Catastrophic Presentation of X-Linked Adrenoleukodystrophy
Vawter-Lee, M. M., Hallinan, B. E., Burrow, T. A., Spaeth, C. G., Arthur, T. M.
Published in JIMD reports (01.01.2015)
Published in JIMD reports (01.01.2015)
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Age-Related Deviation of Gait from Normality in Alkaptonuria
Barton, Gabor J., King, Stephanie L., Robinson, Mark A., Hawken, Malcolm B., Ranganath, Lakshminarayan R.
Published in JIMD reports (01.01.2015)
Published in JIMD reports (01.01.2015)
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CSF 5-Methyltetrahydrofolate Serial Monitoring to Guide Treatment of Congenital Folate Malabsorption Due to Proton-Coupled Folate Transporter (PCFT) Deficiency
Torres, A., Newton, S. A., Crompton, B., Borzutzky, A., Neufeld, E. J., Notarangelo, L., Berry, G. T.
Published in JIMD reports (01.01.2015)
Published in JIMD reports (01.01.2015)
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Metabolic Effects of Increasing Doses of Nitisinone in the Treatment of Alkaptonuria
Gertsman, Ilya, Barshop, Bruce A., Panyard-Davis, Jan, Gangoiti, Jon A., Nyhan, William L.
Published in JIMD reports (01.01.2015)
Published in JIMD reports (01.01.2015)
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