Date: 2019 / Journal: JIMD reports - British Library Electronic Legal Deposit Catalogue-Journal Issues and Articles Search Results

Date 2019 Journal JIMD reports

1. A case of secondary acute myeloid leukemia on a background of glycogen storage disease with chronic neutropenia treated with granulocyte colony stimulating factor. Issue 1 (23rd July 2019)

Authors:: Khalaf, Dina; Bell, Heather; Dale, David; Gupta, Vikas; Faghfoury, Hanna; Morel, Chantal F.; Tierens, Anne; Weinstein, David A.; Yan, Jiong; Thyagu, Santhosh; Maze, Dawn
Journal:: JIMD reports
Issue:: Volume 49:Issue 1(2019)
Page Start:: 37
Record Type:: Journal Article
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2. A fatal case of COQ7‐associated primary coenzyme Q10 deficiency. Issue 1 (3rd April 2019)

Authors:: Kwong, Anna K.‐Y.; Chiu, Annie T.‐G.; Tsang, Mandy H.‐Y.; Lun, Kin‐Shing; Rodenburg, Richard J. T.; Smeitink, Jan; Chung, Brian H.‐Y.; Fung, Cheuk‐Wing
Journal:: JIMD reports
Issue:: Volume 47:Issue 1(2019)
Page Start:: 23
Record Type:: Journal Article
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3. A Japanese case of mitochondrial 3‐hydroxy‐3‐methylglutaryl‐CoA synthase deficiency who presented with severe metabolic acidosis and fatty liver without hypoglycemia. Issue 1 (3rd June 2019)

Authors:: Lee, Tomoko; Takami, Yuichi; Yamada, Kenji; Kobayashi, Hironori; Hasegawa, Yuki; Sasai, Hideo; Otsuka, Hiroki; Takeshima, Yasuhiro; Fukao, Toshiyuki
Journal:: JIMD reports
Issue:: Volume 48:Issue 1(2019)
Page Start:: 19
Record Type:: Journal Article
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4. A kinetic assay of total lipase activity for detecting lysosomal acid lipase deficiency (LAL‐D) and the molecular characterization of 18 LAL‐D patients from Russia. Issue 1 (3rd June 2019)

Authors:: Mayanskiy, Nikolay; Brzhozovskaya, Ekaterina; Pushkov, Alexander; Strokova, Tatiana; Vlasov, Nikolay; Surkov, Andrej; Gundobina, Olga; Savostianov, Kirill
Journal:: JIMD reports
Issue:: Volume 48:Issue 1(2019)
Page Start:: 75
Record Type:: Journal Article
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5. A mutation in mannose‐phosphate‐dolichol utilization defect 1 reveals clinical symptoms of congenital disorders of glycosylation type I and dystroglycanopathy. Issue 1 (30th September 2019)

Authors:: van Tol, Walinka; Ashikov, Angel; Korsch, Eckhard; Abu Bakar, Nurulamin; Willemsen, Michèl A.; Thiel, Christian; Lefeber, Dirk J.
Journal:: JIMD reports
Issue:: Volume 50:Issue 1(2019)
Page Start:: 31
Record Type:: Journal Article
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6. A novel missense variant in SLC18A2 causes recessive brain monoamine vesicular transport disease and absent serotonin in platelets. Issue 1 (25th March 2019)

Authors:: Padmakumar, Manisha; Jaeken, Jaak; Ramaekers, Vincent; Lagae, Lieven; Greene, Daniel; Thys, Chantal; Van Geet, Chris; BioResource, NIHR; Stirrups, Kathleen; Downes, Kate; Turro, Ernest; Freson, Kathleen
Journal:: JIMD reports
Issue:: Volume 47:Issue 1(2019)
Page Start:: 9
Record Type:: Journal Article
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7. A novel mutation in VPS33B gene causing a milder ARC syndrome phenotype with prolonged survival. Issue 1 (22nd March 2019)

Authors:: del Brío Castillo, Rodrigo; Squires, James E.; McKiernan, Patrick J.
Journal:: JIMD reports
Issue:: Volume 47:Issue 1(2019)
Page Start:: 4
Record Type:: Journal Article
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8. A novel null mutation in the pyruvate dehydrogenase phosphatase catalytic subunit gene (PDP1) causing pyruvate dehydrogenase complex deficiency. Issue 1 (17th June 2019)

Authors:: Bedoyan, Jirair K.; Hecht, Leah; Zhang, Shulin; Tarrant, Stacey; Bergin, Ann; Demirbas, Didem; Yang, Edward; Shin, Ha Kyung; Grahame, George J.; DeBrosse, Suzanne D.; Hoppel, Charles L.; Kerr, Douglas S.; Berry, Gerard T.
Journal:: JIMD reports
Issue:: Volume 48:Issue 1(2019)
Page Start:: 26
Record Type:: Journal Article
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9. A rare late progression form of Sly syndrome mucopolysaccharidosis. Issue 1 (29th July 2019)

Authors:: Guffon, Nathalie; Froissart, Roseline; Fouilhoux, Alain
Journal:: JIMD reports
Issue:: Volume 49:Issue 1(2019)
Page Start:: 1
Record Type:: Journal Article
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10. A rare PHKA2 variant (p.G991A) identified in a patient with ketotic hypoglycemia. Issue 1 (28th May 2019)

Authors:: Ago, Yasuhiko; Sugie, Hideo; Fukuda, Tokiko; Otsuka, Hiroki; Sasai, Hideo; Nakama, Mina; Abdelkreem, Elsayed; Fukao, Toshiyuki
Journal:: JIMD reports
Issue:: Volume 48:Issue 1(2019)
Page Start:: 15
Record Type:: Journal Article
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