JIMD Reports
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Latest Documents Most Cited Documents Contributed Authors Related Sources Related Keywords

scholarly journals The development of end stage renal disease in two patients with PMM2‐CDG

JIMD Reports ◽  
2022 ◽  
Author(s):  
Henna Tiwary ◽  
Leah E. Hecht ◽  
William J. Brucker ◽  
Gerard T. Berry ◽  
Nancy M. Rodig
Keyword(s):  
Renal Disease ◽  
End Stage Renal Disease ◽  
Stage Renal Disease ◽  
End Stage

scholarly journals Very long‐chain acyl‐CoA dehydrogenase deficiency in a Swedish cohort: Clinical symptoms, newborn screening, enzyme activity, and genetics

JIMD Reports ◽  
2022 ◽  
Author(s):  
David Olsson ◽  
Michela Barbaro ◽  
Charlotte Haglind ◽  
Maria Halldin ◽  
Svetlana Lajic ◽  
...  
Keyword(s):  
Enzyme Activity ◽  
Newborn Screening ◽  
Dehydrogenase Deficiency ◽  
Clinical Symptoms ◽  
Chain Acyl ◽  
Swedish Cohort ◽  
Long Chain

scholarly journals Issue Information

JIMD Reports ◽  
2022 ◽  
Vol 63 (1) ◽  
pp. 1-2

scholarly journals Clinical status, biochemical profile and management of a single cohort of patients with arginase deficiency

JIMD Reports ◽  
2021 ◽  
Author(s):  
Nandaki Keshavan ◽  
Michelle Wood ◽  
Lucy M. Alderson ◽  
Mario Cortina‐Borja ◽  
Rachel Skeath ◽  
...  
Keyword(s):  
Clinical Status ◽  
Biochemical Profile ◽  
Arginase Deficiency ◽  
Single Cohort

scholarly journals Acute and early developmental outcomes of children with Duarte galactosemia

JIMD Reports ◽  
2021 ◽  
Author(s):  
Judith L. Fridovich‐Keil ◽  
Grace Carlock ◽  
Sneh Patel ◽  
Nancy L. Potter ◽  
Claire D. Coles
Keyword(s):  
Developmental Outcomes ◽  
Early Developmental

scholarly journals Two siblings with galactose mutarotase deficiency: Clinical differences

JIMD Reports ◽  
2021 ◽  
Author(s):  
Havva Yazici ◽  
Ebru Canda ◽  
Yasemin Atik Altınok ◽  
Sema Kalkan Ucar ◽  
Mahmut Coker

scholarly journals Neurocognitive profile of adults with the Norrbottnian type of Gaucher disease

JIMD Reports ◽  
2021 ◽  
Author(s):  
Panagiota Tsitsi ◽  
Ioanna Markaki ◽  
Josefine Waldthaler ◽  
Maciej Machaczka ◽  
Per Svenningsson
Keyword(s):  
Gaucher Disease ◽  
Neurocognitive Profile

scholarly journals Low donor chimerism may be sufficient to prevent demyelination in adrenoleukodystrophy

JIMD Reports ◽  
2021 ◽  
Author(s):  
Takahiro Ikeda ◽  
Yuta Kawahara ◽  
Akihiko Miyauchi ◽  
Hitomi Niijima ◽  
Rieko Furukawa ◽  
...  
Keyword(s):  
Donor Chimerism

scholarly journals Chronic lithium administration in a mouse model for Krabbe disease

JIMD Reports ◽  
2021 ◽  
Author(s):  
Ambra Del Grosso ◽  
Gabriele Parlanti ◽  
Lucia Angella ◽  
Nadia Giordano ◽  
Ilaria Tonazzini ◽  
...  
Keyword(s):  
Mouse Model ◽  
Krabbe Disease
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