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JIMD Reports
Latest Publications
TOTAL DOCUMENTS
232
(FIVE YEARS 232)
H-INDEX
4
(FIVE YEARS 4)
Published By Wiley
2192-8312, 2192-8312
Latest Documents
Most Cited Documents
Contributed Authors
Related Sources
Related Keywords
Latest Documents
Most Cited Documents
Contributed Authors
Related Sources
Related Keywords
The development of end stage renal disease in two patients with PMM2‐CDG
JIMD Reports
◽
10.1002/jmd2.12269
◽
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
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Very long‐chain acyl‐CoA dehydrogenase deficiency in a Swedish cohort: Clinical symptoms, newborn screening, enzyme activity, and genetics
JIMD Reports
◽
10.1002/jmd2.12268
◽
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
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Issue Information
JIMD Reports
◽
10.1002/jmd2.12226
◽
2022
◽
Vol 63
(1)
◽
pp. 1-2
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Clinical status, biochemical profile and management of a single cohort of patients with arginase deficiency
JIMD Reports
◽
10.1002/jmd2.12266
◽
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
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Extended recovery of cardiac function after severe infantile cardiomyopathy presentation of Barth syndrome
JIMD Reports
◽
10.1002/jmd2.12264
◽
2021
◽
Author(s):
Jessie Yester
◽
Brian Feingold
Keyword(s):
Cardiac Function
◽
Barth Syndrome
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Acute and early developmental outcomes of children with Duarte galactosemia
JIMD Reports
◽
10.1002/jmd2.12267
◽
2021
◽
Author(s):
Judith L. Fridovich‐Keil
◽
Grace Carlock
◽
Sneh Patel
◽
Nancy L. Potter
◽
Claire D. Coles
Keyword(s):
Developmental Outcomes
◽
Early Developmental
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Two siblings with galactose mutarotase deficiency: Clinical differences
JIMD Reports
◽
10.1002/jmd2.12263
◽
2021
◽
Author(s):
Havva Yazici
◽
Ebru Canda
◽
Yasemin Atik Altınok
◽
Sema Kalkan Ucar
◽
Mahmut Coker
Download Full-text
Neurocognitive profile of adults with the Norrbottnian type of Gaucher disease
JIMD Reports
◽
10.1002/jmd2.12262
◽
2021
◽
Author(s):
Panagiota Tsitsi
◽
Ioanna Markaki
◽
Josefine Waldthaler
◽
Maciej Machaczka
◽
Per Svenningsson
Keyword(s):
Gaucher Disease
◽
Neurocognitive Profile
Download Full-text
Low donor chimerism may be sufficient to prevent demyelination in adrenoleukodystrophy
JIMD Reports
◽
10.1002/jmd2.12259
◽
2021
◽
Author(s):
Takahiro Ikeda
◽
Yuta Kawahara
◽
Akihiko Miyauchi
◽
Hitomi Niijima
◽
Rieko Furukawa
◽
...
Keyword(s):
Donor Chimerism
Download Full-text
Chronic lithium administration in a mouse model for Krabbe disease
JIMD Reports
◽
10.1002/jmd2.12258
◽
2021
◽
Author(s):
Ambra Del Grosso
◽
Gabriele Parlanti
◽
Lucia Angella
◽
Nadia Giordano
◽
Ilaria Tonazzini
◽
...
Keyword(s):
Mouse Model
◽
Krabbe Disease
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