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author_facet:"Rahman, Shamima"
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1
JIMD Reports, Volume 42
Published 2018
Springer Berlin Heidelberg
Table of Contents:
“
... Storage
Disease
: Emergent Use of Plasmapheresis -- A Third Case of Glycogen Storage
Disease
IB and Giant...
”
Read Now
2
JIMD Reports, Volume 43
Published 2019
Springer Berlin Heidelberg
Table of Contents:
“
... Interstitial Lung
Disease
as a Primary Presenting Manifestation of Mucopolysaccharidosis Type I -- A Middle...
”
Read Now
3
JIMD Reports, Volume 44
Published 2019
Springer Berlin Heidelberg
Table of Contents:
“
..., and Homocitrullinuria Syndrome Causing Severe Neonatal Hyperammonemia -- Screening for Niemann-Pick Type C
Disease
in a...
”
Read Now
4
JIMD Reports, Volume 45
Published 2019
Springer Berlin Heidelberg
Table of Contents:
“
...I-Cell
Disease
(Mucolipidosis II): A Case Series from a Tertiary Paediatric Centre Reviewing...
”
Read Now
5
JIMD Reports, Volume 38
Published 2018
Springer Berlin Heidelberg
Table of Contents:
“
... Case of Infantile Stroke -- Treatment of Depression in Adults with Fabry
Disease
-- Mutations in GMPPB...
”
Read Now
6
JIMD Reports, Volume 35
Published 2017
Springer Berlin Heidelberg
Table of Contents:
“
... Epilepticus as a Possible Etiology of Sudden Death in Lesch–Nyhan
Disease
: A Case Report and Review...
”
Read Now
7
JIMD Reports, Volume 36
Published 2017
Springer Berlin Heidelberg
Table of Contents:
“
... Dehydrogenase Deficiency -- Domains of Daily Physical Activity in Children with Mitochondrial
Disease
: A 3D...
”
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8
JIMD Reports, Volume 37
Published 2017
Springer Berlin Heidelberg
Table of Contents:
“
... Mutation in Wolman
Disease
-- Guanidinoacetate Methyltransferase Activity in Lymphocytes, for a Fast...
”
Read Now
9
JIMD Reports, Volume 34
Published 2017
Springer Berlin Heidelberg
Table of Contents:
“
... Proteinosis in Lysinuric Protein Intolerance -- COXPD9 an Evolving Multisystem
Disease
-- Congenital Lactic...
”
Read Now
10
JIMD Reports, Volume 41 : Focus Issue: Adults and Metabolism
Published 2018
Springer Berlin Heidelberg
Table of Contents:
“
... Transplantation Arrests the Progression of Neurodegenerative
Disease
in Late-Onset Tay-Sachs
Disease
-- Expert...
”
Read Now
11
JIMD Reports, Volume 33
Published 2017
Springer Berlin Heidelberg
Table of Contents:
“
...
Disease
and Their Parents in Japan: A Literature Review -- Swallow Prognosis and Follow-Up Protocol...
”
Read Now
12
JIMD Reports, Volume 40
Published 2018
Springer Berlin Heidelberg
Table of Contents:
“
... and Potentially
Disease
Modifying Effect of High Fat/Low Carbohydrate Diet -- Early Diagnosed and Treated Glutaric...
”
Read Now
13
JIMD Reports, Volume 39
Published 2018
Springer Berlin Heidelberg
Table of Contents:
“
... in Adult-Onset Niemann-Pick
Disease
Type C Patients Treated with Miglustat -- Beta-Ketothiolase Deficiency...
”
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14
JIMD Reports, Volume 26
Published 2016
Springer Berlin Heidelberg
Subjects:
“
...
Diseases
...
”
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15
JIMD Reports, Volume 27
Published 2016
Springer Berlin Heidelberg
Table of Contents:
“
...
Diseases
with Possible Mitochondrial Dysfunction -- Voluntary Exercise Prevents Oxidative Stress...
”
Read Now
16
JIMD Reports, Volume 28
Published 2016
Springer Berlin Heidelberg
Table of Contents:
“
...? -- Normoglycemic Ketonemia as Biochemical Presentation in Ketotic Glycogen Storage
Disease
-- LARS2 Variants...
”
Read Now
17
JIMD Reports, Volume 31
Published 2017
Springer Berlin Heidelberg
Table of Contents:
“
... Common Problems in Fabry
Disease
-- Spurious Elevation of Multiple Urine Amino Acids by Ion-Exchange...
”
Read Now
18
JIMD Reports, Volume 29
Published 2016
Springer Berlin Heidelberg
Subjects:
“
...
Diseases
...
”
Read Now
19
JIMD Reports, Volume 30
Published 2016
Springer Berlin Heidelberg
Table of Contents:
“
... Urine
Disease
After Liver Transplantation from a Related Heterozygous Living Donor -- Identification...
”
Read Now
20
JIMD Reports, Volume 25
Published 2016
Springer Berlin Heidelberg
Table of Contents:
“
... of Gastrointestinal Symptoms in a Patient with Niemann-Pick Type C
Disease
-- Improvement of Diffusion Tensor Imaging...
”
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Baumgartner, Matthias
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Morava, Eva
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Patterson, Marc
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Rahman, Shamima
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