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1
JIMD Reports, Volume 39
Published 2018
Springer Berlin Heidelberg
Table of Contents:
“
...
Cases
-- The Prevalence of PMM2-CDG in Estonia Based on Population Carrier Frequencies and Diagnosed...
”
Read Now
2
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
3
JIMD Reports, Volume 33
Published 2017
Springer Berlin Heidelberg
Table of Contents:
“
... with Biallelic EARS2 Variants:
Case
Report and Review of the Reported Neuroradiological Features...
”
Read Now
4
JIMD Reports, Volume 25
Published 2016
Springer Berlin Heidelberg
Table of Contents:
“
... Excretion -- New
Cases
of DHTKD1 Mutations in Patients with 2-Ketoadipic Aciduria -- Screening...
”
Read Now
5
JIMD Reports, Volume 40
Published 2018
Springer Berlin Heidelberg
Table of Contents:
“
... Protein Deficiency: Severe Cardiomyopathy and Cardiac Transplantation -- Three
Cases
of Hereditary...
”
Read Now
6
JIMD Reports, Volume 44
Published 2019
Springer Berlin Heidelberg
Table of Contents:
“
... Adrenoleukodystrophy -- Psychosocial Functioning in Parents of MPS III Patients -- The Second
Case
of Saposin A...
”
Read Now
7
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
8
JIMD Reports, Volume 32
Published 2017
Springer Berlin Heidelberg
Table of Contents:
“
... of an LCHADD Patient During Pregnancy and High Intensity Exercise -- Rare
Case
of Hepatic Gaucheroma in a Child...
”
Read Now
9
JIMD Reports, Volume 30
Published 2016
Springer Berlin Heidelberg
Table of Contents:
“
... Screening
Case
of Carnitine Palmitoyltransferase-II Deficiency -- Acute Metabolic Crises in Maple Syrup...
”
Read Now
10
JIMD Reports, Volume 43
Published 2019
Springer Berlin Heidelberg
Table of Contents:
“
...: A
Case
Report.-Metabolomics Profile in ABAT Deficiency Pre- and Post-treatment -- Cognitive...
”
Read Now
11
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
12
JIMD Reports, Volume 28
Published 2016
Springer Berlin Heidelberg
Table of Contents:
“
... in a Child with Carnitine Palmitoyltransferase 2 Deficiency: A
Case
Report and Review of the Literature...
”
Read Now
13
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
14
JIMD Reports, Volume 31
Published 2017
Springer Berlin Heidelberg
Table of Contents:
“
... Pompe Disease: A
Case
Report -- Chronic Diarrhea in l-Amino Acid Decarboxylase (AADC) Deficiency: A...
”
Read Now
15
JIMD Reports, Volume 41 : Focus Issue: Adults and Metabolism
Published 2018
Springer Berlin Heidelberg
Table of Contents:
“
... in Mucopolysaccharidosis Type II: A
Case
Series -- Parenting a Child with Phenylketonuria: An Investigation...
”
Read Now
16
JIMD Reports, Volume 26
Published 2016
Springer Berlin Heidelberg
“
...JIMD Reports publishes
case
and short research reports in the area of inherited metabolic disorders...
”
Read Now
17
JIMD Reports, Volume 18
Published 2015
Springer Berlin Heidelberg
“
...JIMD Reports publishes
case
and short research reports in the area of inherited metabolic disorders...
”
Read Now
18
JIMD Reports, Volume 20
Published 2015
Springer Berlin Heidelberg
“
...JIMD Reports publishes
case
and short research reports in the area of inherited metabolic disorders...
”
Read Now
19
JIMD Reports, Volume 21
Published 2015
Springer Berlin Heidelberg
“
...JIMD Reports publishes
case
and short research reports in the area of inherited metabolic disorders...
”
Read Now
20
JIMD Reports, Volume 22
Published 2015
Springer Berlin Heidelberg
“
...JIMD Reports publishes
case
and short research reports in the area of inherited metabolic disorders...
”
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612 - Human physiology
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English
28
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Springer eBooks 2005-
28
Author
Baumgartner, Matthias
28
Morava, Eva
28
Patterson, Marc
Rahman, Shamima
21
Zschocke, Johannes
7
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