Volume 51; Issue 1

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JIMD Reports
Volume 51; Issue 1

JIMD Reports

Volume 51; Issue 1

1

MorquioâB disease: Clinical and genetic characteristics of a distinct GLB1 ârelated dysostosis multiplex

Abumansour, Iman S., Yuskiv, Nataliya, Paschke, Eduard, StocklerâIpsiroglu, Sylvia

Journal:

Year:

2020

Language:

english

File:

PDF, 1.65 MB

english, 2020

2

An ancestral variant causing type I xanthinuria in Turkmen and Arab families is predicted to prevail in the AfroâAsian stoneâforming belt

Peretz, Hava, Korostishevsky, Michael, Steinberg, David M., Kabha, Mustafa, Usher, Sali, Krause, Irit, Shalev, Hannah, Landau, Daniel, Levartovsky, David

Journal:

Year:

2020

Language:

english

File:

PDF, 1.48 MB

english, 2020

3

Early detection of lysosomal diseases by screening of cases of idiopathic splenomegaly and/or thrombocytopenia with a nextâgeneration sequencing gene panel

MuÃ±oz, Gloria, GarcÃaâSeisdedos, David, Ciubotariu, Crina, PirisâVillaespesa, Miguel, GandÃa, Marta, MartÃnâMoro, Fernando, GutiÃ©rrezâSolana, Luis G., Morado, Marta, LÃ³pezâJimÃ©nez, Ja

Journal:

Year:

2020

Language:

english

File:

PDF, 1.26 MB

english, 2020

4

Hypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patients

Moravej, Hossein, Altassan, Ruqaiah, Jaeken, Jaak, Enns, Gregory M., Ellaway, Carolyn, Balasubramaniam, Shanti, De Lonlay, Pascale, Coman, David, MercimekâAndrews, Saadet, Witters, Peter, Morava, Ev

Journal:

Year:

2020

Language:

english

File:

PDF, 782 KB

english, 2020

5

Highâdose hydroxocobalamin achieves biochemical correction and improvement of neuropsychiatric deficits in adults with late onset cobalamin C deficiency

Higashimoto, Tomoyasu, Kim, Alexander Y., Ogawa, Jessica T., Sloan, Jennifer L., Almuqbil, Mohammed A., Carlson, Julia M., Manoli, Irini, Venditti, Charles P., GunayâAygun, Meral, Wang, Tao

Journal:

Year:

2020

Language:

english

File:

PDF, 1.42 MB

english, 2020

6

Neurotoxicity including posterior reversible encephalopathy syndrome after initiation of calcineurin inhibitors in transplanted methylmalonic acidemia patients: Two case reports and review of the literature

Molema, Femke, Williams, Monique, Langendonk, Janneke, DarwishâMurad, Sarwa, Wetering, Jacqueline, Jacobs, Ed, Onkenhout, Willem, Brusse, Esther, Eerden, Anke, Wagenmakers, Margreet

Journal:

Year:

2020

Language:

english

File:

PDF, 3.24 MB

english, 2020

7

Use of complementary and alternative medicine in patients with inborn errors of metabolism: A singleâcenter study

Tao, Jessica, Rupar, C. Anthony, Miller, Michael R., Ratko, Suzanne, Prasad, Chitra

Journal:

Year:

2020

Language:

english

File:

PDF, 951 KB

english, 2020

8

High prevalence of selfâreported autism spectrum disorder in the Propionic Acidemia Registry

Cotrina, Maria L., Ferreiras, Sindy, Schneider, Patricia

Journal:

Year:

2020

Language:

english

File:

PDF, 745 KB

english, 2020

9

Administration of gammaâhydroxybutyrate instead of betaâhydroxybutyrate to a liver transplant recipient suffering from propionic acidemia and cardiomyopathy: A case report on a medication prescribing error

TuchmannâDurand, Caroline, Thevenet, Eloise, Moulin, Florence, Lesage, Fabrice, Bouchereau, Juliette, Oualha, Mehdi, Khraiche, Diala, Brassier, AnaÃ¯s, Wicker, Camille, GobinâLimballe, StÃ©phanie,

Journal:

Year:

2020

Language:

english

File:

PDF, 660 KB

english, 2020

10

NGLY1 deficiency: Novel patient, review of the literature and diagnostic algorithm

LipiÅski, Patryk, BogdaÅska, Anna, RÃ³Å¼dÅ¼yÅskaâÅwiÄtkowska, Agnieszka, WierzbickaâRuciÅska, Aldona, TylkiâSzymaÅska, Anna

Journal:

Year:

2020

Language:

english

File:

PDF, 957 KB

english, 2020

11

Issue Information

Journal:

Year:

2020

Language:

english

File:

PDF, 1.08 MB

english, 2020