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journalStr:"Journal of inherited metabolic disease"
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PubPharm (6)
1
Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia : First revision
enthalten in:
Journal of inherited metabolic disease
| 2021
von
Forny, P.
|
Hörster, F.
|
Ballhausen, D.
| +18
ErratumIn: J Inherit Metab Dis. 2022 Jul;45(4):862. - PMID 35841205
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2
Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: first revision
sonderdruck aus:
Journal of inherited metabolic disease
| 2021
von
Forny, P.
|
Hörster, F.
|
Ballhausen, D.
| +18
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3
Clinical characteristics of megaconial congenital muscular dystrophy due to choline kinase beta gene defects in a series of 15 patients
enthalten in:
Journal of inherited metabolic disease
| 2015
von
Haliloglu, G.
|
Talim, B.
|
Sel, C.
| +1
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4
Clinical characteristics of megaconial congenital muscular dystrophy due to choline kinase beta gene defects in a series of 15 patients
enthalten in:
Journal of inherited metabolic disease
| 2015
von
Haliloglu, G.
|
Talim, B.
|
Sel, C.
| +1
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5
Clinical characteristics of megaconial congenital muscular dystrophy due to choline kinase beta gene defects in a series of 15 patients
enthalten in:
Journal of inherited metabolic disease
| 2015
von
Haliloglu, G.
|
Talim, B.
|
Sel, C.
| +1
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6
Clinical characteristics of megaconial congenital muscular dystrophy due to choline kinase beta gene defects in a series of 15 patients
enthalten in:
Journal of inherited metabolic disease
| 2015
von
Haliloglu, G.
|
Talim, B.
|
Sel, C.
| +1
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1
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Zeitschrift: Journal of inherited metabolic disease
Medienart
5
Aufsätze
5
E-Ressourcen
4
E-Artikel
1
Bücher
1
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1
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Zeitschriftentitel
Journal of inherited metabolic disease
Thema
3
Autistic Feature
3
Congenital Muscular Dystrophy
3
Global Developmental Delay
3
Intellectual Disability
3
Serum Creatine Kinase Level
2
Journal Article
1
CHKB protein, human
1
Choline Kinase
1
EC 2.7.1.32
1
Practice Guideline
1
Research Support, Non-U.S. Gov't
1
diagnosis and management
1
guidelines
1
inherited metabolic disease
1
methylmalonic acidaemia
1
propionic acidaemia
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Erscheinungszeitraum
2
2020-
4
2010-2019
Erscheinungsjahr(e)
Von:
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Sprache
6
Englisch
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