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/vufind/Search/Results?lookfor=%22Pronicka%2C+Ewa%22&type=Person&page=3
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PubPharm (137)
21
3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency
enthalten in:
Clinica chimica acta; international journal of clinical chemistry
| 2017
von
Rokicki, D.
|
Pajdowska, M.
|
Trubicka, J.
| +23
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22
Biallelic mutations in CYP24A1 or SLC34A1 as a cause of infantile idiopathic hypercalcemia (IIH) with vitamin D hypersensitivity : molecular study of 11 historical IIH cases
enthalten in:
Journal of applied genetics
| 2017
von
Pronicka, E.
|
Ciara, E.
|
Halat, P.
| +12
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23
A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients
enthalten in:
Journal of inherited metabolic disease
| 2017
von
Pronicka, E.
|
Ropacka-Lesiak, M.
|
Trubicka, J.
| +17
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24
A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients
enthalten in:
Journal of inherited metabolic disease
| 2017
von
Pronicka, E.
|
Ropacka-Lesiak, M.
|
Trubicka, J.
| +17
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25
A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients
enthalten in:
Journal of inherited metabolic disease
| 2017
von
Pronicka, E.
|
Ropacka-Lesiak, M.
|
Trubicka, J.
| +17
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26
Biallelic mutations in CYP24A1 or SLC34A1 as a cause of infantile idiopathic hypercalcemia (IIH) with vitamin D hypersensitivity: molecular study of 11 historical IIH cases
enthalten in:
Journal of applied genetics
| 2017
von
Pronicka, E.
|
Ciara, E.
|
Halat, P.
| +12
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27
Hypocapnic hypothesis of Leigh disease
enthalten in:
Medical hypotheses
| 2017
von
Pronicka, E.
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28
Identification of the first in Poland CACNA1A gene mutation in familial hemiplegic migraine. Case report
enthalten in:
Neurologia i neurochirurgia polska
| 2017
von
Kierdaszuk, B.
|
Dziewulska, D.
|
Pronicka, E.
| +8
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29
Hypocapnic hypothesis of Leigh disease
enthalten in:
Medical hypotheses
| 2017
von
Pronicka, E.
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30
Progressive deafness–dystonia due to SERAC1 mutations: A study of 67 cases
enthalten in:
Annals of neurology
| 2017
von
Maas, R.
|
Iwanicka‐Pronicka, K.
|
Kalkan Ucar, S.
| +55
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Journal of inherited metabolic disease
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American journal of human genetics
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European journal of paediatric neurology
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DNA, Mitochondrial
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3-methylglutaconic aciduria
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Mitochondrial Trifunctional Protein
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1406-16-2
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Membrane Proteins
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Vitamin D
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Surf-1 protein
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EC 7.1.1.2
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Electron Transport Complex I
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