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3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency
by
Rokicki, Dariusz
,
Pajdowska, Magdalena
,
Trubicka, Joanna
,
Thong, Meow-Keong
,
Ciara, Elżbieta
,
Piekutowska-Abramczuk, Dorota
,
Pronicki, Maciej
,
Sikora, Roman
,
Haidar, Rijad
,
Ołtarzewski, Mariusz
,
Jabłońska, Ewa
,
Muthukumarasamy, Premala
,
Sthaneswar, Pavai
,
Gan, Chin-Seng
,
Krajewska-Walasek, Małgorzata
,
Carrozzo, Rosalba
,
Verrigni, Daniela
,
Semeraro, Michela
,
Rizzo, Cristiano
,
Taurisano, Roberta
,
Alhaddad, Bader
,
Kovacs-Nagy, Reka
,
Haack, Tobias B.
,
Dionisi-Vici, Carlo
,
Pronicka, Ewa
,
Wortmann, Saskia B.
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Clinica chimica acta
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Clinica Chimica Acta
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Carbamoyl-Phosphate Synthase I Deficiency Disease - Diagnosis
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Carbamoyl-Phosphate Synthase I Deficiency Disease - Genetics
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Carbamoyl-Phosphate Synthase I Deficiency Disease - Urine
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Glutarates - Urine
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