Volume 54; Issue 1

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JIMD Reports
Volume 54; Issue 1

JIMD Reports

Volume 54; Issue 1

1

Earlyâonset coenzyme Q10 deficiency associated with ataxia and respiratory chain dysfunction due to novel pathogenic COQ8A variants, including a large intragenic deletion

Cotta, Ana, Alston, Charlotte L., BaptistaâJunior, Sidney, Paim, Julia F., Carvalho, Elmano, Navarro, Monica M., Appleton, Marie, Ng, Yi Shiau, Valicek, Jaquelin, daâCunhaâJunior, Antonio L., Li

Journal:

Year:

2020

File:

PDF, 2.19 MB

2020

2

The Lysosomal Diseases Testing Laboratory: A review of the past 47âyears

Wenger, David A., Luzi, Paola

Journal:

Year:

2020

File:

PDF, 804 KB

2020

3

A newborn screening approach to diagnose 3âhydroxyâ3âmethylglutarylâCoA lyase deficiency

VÃ¡clavÃk, Jan, MÃ¡drovÃ¡, Lucie, KouÅil, Å tÄpÃ¡n, de Sousa, Julie, BrumarovÃ¡, Radana, JaneÄkovÃ¡, Hana, JÃ¡ÄovÃ¡, Jaroslava, FriedeckÃ½, David, KnapkovÃ¡, MÃ¡ria, Kluijtmans, Leo A. J., GrÃ¼ne

Journal:

Year:

2020

File:

PDF, 1.35 MB

2020

4

The reâoccurrence of cardiomyopathy in propionic acidemia after liver transplantation

Berry, Gerard T., Blume, Elizabeth D., Wessel, Ann, Singh, Tajinder, Hecht, Leah, Marsden, Deborah, Sahai, Inderneel, Elisofon, Scott, Ferguson, Michael, Kim, Heung Bae, Harris, David J., Demirbas, Di

Journal:

Year:

2020

File:

PDF, 744 KB

2020

5

Beneficial outcome of early dietary lysine restriction as an adjunct to pyridoxine therapy in a child with pyridoxine dependant epilepsy due to Antiquitin deficiency

Kava, Maina P., Bryant, Leah, Rowe, Peter, Lewis, Barry, Greed, Lawrence, Balasubramaniam, Shanti

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Year:

2020

File:

PDF, 857 KB

2020

6

An uncommon cause of early infantile liver disease and raised chitotriosidase

Sreekantam, Srividya, Rizvi, Hina, Brown, Rachel, Santra, Saikat, Raiman, Julian, Vijay, Suresh, Mckiernan, Patrick J., Gupte, Girish L.

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Year:

2020

File:

PDF, 556 KB

2020

7

Evaluation of 11âyears of newborn screening for maple syrup urine disease in the Netherlands and a systematic review of the literature: Strategies for optimization

Stroek, Kevin, Boelen, Anita, Bouva, Marelle J., De Sainâvan der Velden, Monique, Schielen, Peter C. J. I., Maase, Rose, Engel, Henk, Jakobs, Bernadette, Kluijtmans, Leo A. J., Mulder, Margot F., Ru

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Year:

2020

File:

PDF, 1.29 MB

2020

8

Successful fenofibrate therapy for severe and persistent hypertriglyceridemia in a boy with cirrhosis and glycerolâ3âphosphate dehydrogenase 1 deficiency

Matarazzo, Lorenza, Ragnoni, Valentina, Malaventura, Cristina, Leon, Alberta, Colavito, Davide, Vigna, Giovanni Battista, Lanza, Giovanni, Sonzogni, Aurelio, Maggiore, Giuseppe

Journal:

Year:

2020

File:

PDF, 1.46 MB

2020

9

p. P1379S , a benign variant with reduced ATP7B protein level in Wilson Disease

Yi, Fan, Poskanzer, Sheri A., Myers, Candace T., Thies, Jenny, Collins, Christopher J., Dayuha, Remwilyn, Duong, Phi, Houwen, Roderick, Hahn, Si Houn

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Year:

2020

File:

PDF, 645 KB

2020

10

Quantifying lymphocyte vacuolization serves as a measure of CLN3 disease severity

Kuper, Willemijn F. E., Oostendorp, Marlies, van den Broek, Brigitte T. A., van Veghel, Karin, Nonkes, Lourens J. P., Nieuwenhuis, Edward E. S., Fuchs, Sabine A., Veenendaal, Tineke, Klumperman, Judit

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Year:

2020

File:

PDF, 3.58 MB

2020

11

Issue Information

Journal:

Year:

2020

File:

PDF, 1.08 MB

2020

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