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Volume 48; Issue 1
Main
JIMD Reports
Volume 48; Issue 1
JIMD Reports
Volume 48; Issue 1
1
A novel null mutation in the pyruvate dehydrogenase phosphatase catalytic subunit gene ( PDP1 ) causing pyruvate dehydrogenase complex deficiency
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
Journal:
JIMD Reports
Year:
2019
Language:
english
File:
PDF, 1.71 MB
Your tags:
english, 2019
2
Prevalence of Fabry disease in male dialysis patients: Argentinean screening study
Frabasil, Joaquín
,
Durand, Consuelo
,
Sokn, Silvia
,
Gaggioli, Daniela
,
Carozza, Patricia
,
Carabajal, Ricardo
,
Politei, Juan
,
Schenone, Andrea B.
Journal:
JIMD Reports
Year:
2019
Language:
english
File:
PDF, 1.45 MB
Your tags:
english, 2019
3
Domino liver transplantation for select metabolic disorders: Expanding the living donor pool
Celik, Neslihan
,
Squires, James E.
,
Soltys, Kyle
,
Vockley, Jerry
,
Shellmer, Diana A.
,
Chang, Wonbae
,
Strauss, Kevin
,
McKiernan, Patrick
,
Ganoza, Armando
,
Sindhi, Rakesh
,
Bond, Geoffrey
,
Mazariegos, Ge
Journal:
JIMD Reports
Year:
2019
Language:
english
File:
PDF, 1.92 MB
Your tags:
english, 2019
4
Functional analysis of GALT variants found in classic galactosemia patients using a novel cell-free translation method
Canson, Daffodil M.
,
Silao, Catherine Lynn T.
,
Caoili, Salvador Eugenio C.
Journal:
JIMD Reports
Year:
2019
Language:
english
File:
PDF, 1021 KB
Your tags:
english, 2019
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