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/vufind/Search/Results?lookfor=%22Organic+aciduria%22&type=Subject&sort=year%2C+publishDateDaySort_date+desc%2C+id
/vufind/Search/Results?lookfor=%22Organic+aciduria%22&type=Subject&sort=year%2C+publishDateDaySort_date+desc%2C+id
Search /vufind/Search2/Results?lookfor=%22Organic+aciduria%22&type=Subject&sort=year%2C+publishDateDaySort_date+desc%2C+id
PubPharm (216)
1
Spectrum of Organic Aciduria Diseases in Tunisia : A 35-year Retrospective Study
enthalten in:
Saudi journal of medicine & medical sciences
| 2024
von
Jelassi, A.
|
Nasrallah, F.
|
Talbi, E.
| +6
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2
Kidney urinary biomarkers in patients with branched-chain amino acid and cobalamin metabolism defects
enthalten in:
Journal of inherited metabolic disease
| 2023
von
Köpfer, F.
|
Garbade, S.
|
Klingbeil, K.
| +7
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3
Rapid and efficient LC-MS/MS diagnosis of inherited metabolic disorders : a semi-automated workflow for analysis of organic acids, acylglycines, and acylcarnitines in urine
enthalten in:
Clinical chemistry and laboratory medicine
| 2023
von
Piskláková, B.
|
Friedecká, J.
|
Ivanovová, E.
| +6
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4
Glutaric aciduria and L-2-hydroxyglutaric aciduria : Clinical and molecular findings of 35 patients from Turkey
enthalten in:
Molecular genetics and metabolism reports
| 2023
von
Bozaci, A.
|
Er, E.
|
Ünal, A.
| +6
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5
The impact of liver transplantation on health-related quality of life in (acute) intoxication-type inborn errors of metabolism
enthalten in:
Journal of inherited metabolic disease
| 2023
von
Greco, B.
|
Caviglia, S.
|
Martinelli, D.
| +10
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6
Glutaryl-CoA Dehydrogenase Misfolding in Glutaric Acidemia Type 1
enthalten in:
International journal of molecular sciences
| 2023
von
Barroso, M.
|
Gertzen, M.
|
Puchwein-Schwepcke, A.
| +6
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7
Delayed Biotin Therapy in a Child with Atypical Profound Biotinidase Deficiency : Late Arrival of the Truth and a Lesson Worth Thinking
enthalten in:
International journal of molecular sciences
| 2023
von
Liu, S.
|
Zhang, Y.
|
Deng, Z.
| +4
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8
How guideline development has informed clinical research for organic acidurias (et vice versa)
enthalten in:
Journal of inherited metabolic disease
| 2023
von
Forny, P.
|
Hörster, F.
|
Baumgartner, M.
| +2
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9
The complex machinery of human cobalamin metabolism
enthalten in:
Journal of inherited metabolic disease
| 2023
von
McCorvie, T.
|
Ferreira, D.
|
Yue, W.
| +1
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10
Organic Aciduria Disorders in Pregnancy : An Overview of Metabolic Considerations
enthalten in:
Metabolites
| 2023
von
Shakerdi, L.
|
Gillman, B.
|
Corcoran, E.
| +2
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Zeitschriftentitel
59
Journal of inherited metabolic disease
20
Orphanet journal of rare diseases
18
European journal of pediatrics
8
Molecular genetics and metabolism
7
Metabolites
4
Cellular and molecular neurobiology
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Clinical and experimental medicine
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Methods in molecular biology (Clifton, N.J.)
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Archives of biochemistry and biophysics
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Thema
61
Journal Article
56
Organic aciduria
50
Organic acidurias
44
Organic Aciduria
30
organic aciduria
27
organic acidurias
18
Research Support, Non-U.S. Gov't
18
Review
15
Urea cycle disorders
14
Case Reports
14
Hyperammonemia
14
Inborn errors of metabolism
13
Methylmalonic aciduria
13
Propionic aciduria
11
inborn errors of metabolism
10
Inborn error of metabolism
10
Leucine
10
Maple syrup urine disease
9
Glutaric Aciduria Type
9
Methylmalonic
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Erscheinungszeitraum
195
2000-
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1900-1999
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