Results
|
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1301.
|
Hyperinsulinism-hyperammonaemia syndrome: novel mutations in the GLUD1 gene and genotype-phenotype correlations. [electronic resource] by
- Kapoor, Ritika R
- Flanagan, Sarah E
- Fulton, Piers
- Chakrapani, Anupam
- Chadefaux, Bernadette
- Ben-Omran, Tawfeg
- Banerjee, Indraneel
- Shield, Julian P
- Ellard, Sian
- Hussain, Khalid
Producer: 20091113
In:
European journal of endocrinology vol. 161
Availability: No items available.
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1302.
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1303.
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1304.
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Carnitine deficiency induces a short QT syndrome. [electronic resource] by
- Roussel, Julien
- Labarthe, François
- Thireau, Jerome
- Ferro, Fabio
- Farah, Charlotte
- Roy, Jerome
- Horiuchi, Masahisa
- Tardieu, Martine
- Lefort, Bruno
- François Benoist, Jean
- Lacampagne, Alain
- Richard, Sylvain
- Fauconnier, Jeremy
- Babuty, Dominique
- Le Guennec, Jean Yves
Producer: 20160929
In:
Heart rhythm vol. 13
Availability: No items available.
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1306.
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1307.
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1308.
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Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders. [electronic resource] by
- Posset, Roland
- Garcia-Cazorla, Angeles
- Valayannopoulos, Vassili
- Teles, Elisa Leão
- Dionisi-Vici, Carlo
- Brassier, Anaïs
- Burlina, Alberto B
- Burgard, Peter
- Cortès-Saladelafont, Elisenda
- Dobbelaere, Dries
- Couce, Maria L
- Sykut-Cegielska, Jolanta
- Häberle, Johannes
- Lund, Allan M
- Chakrapani, Anupam
- Schiff, Manuel
- Walter, John H
- Zeman, Jiri
- Vara, Roshni
- Kölker, Stefan
Producer: 20171206
In:
Journal of inherited metabolic disease vol. 39
Availability: No items available.
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1309.
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1310.
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1311.
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Carnitine insufficiency is associated with fatigue during lenvatinib treatment in patients with hepatocellular carcinoma. [electronic resource] by
- Okubo, Hironao
- Ando, Hitoshi
- Ishizuka, Kei
- Kitagawa, Ryuta
- Okubo, Shoki
- Saito, Hiroaki
- Kokubu, Shigehiro
- Miyazaki, Akihisa
- Ikejima, Kenichi
- Shiina, Shuichiro
- Nagahara, Akihito
Producer: 20200619
In:
PloS one vol. 15
Availability: No items available.
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1312.
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1313.
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Treating hepatic encephalopathy in cirrhotic patients admitted to ICU with sodium phenylbutyrate: a preliminary study. [electronic resource] by
- Weiss, Nicolas
- Tripon, Simona
- Lodey, Marion
- Guiller, Elsa
- Junot, Helga
- Monneret, Denis
- Mayaux, Julien
- Brisson, Hélène
- Mallet, Maxime
- Rudler, Marika
- Imbert-Bismut, Françoise
- Thabut, Dominique
Producer: 20180917
In:
Fundamental & clinical pharmacology vol. 32
Availability: No items available.
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1314.
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1315.
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1316.
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1317.
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[Primary carnitine deficiency in 17 patients: diagnosis, treatment and follow up]. [electronic resource] by
- Han, Lian-shu
- Ye, Jun
- Qiu, Wen-juan
- Zhang, Hui-wen
- Wang, Yu
- Ji, Wen-jun
- Gao, Xiao-lan
- Li, Xiao-yan
- Jin, Jing
- Gu, Xue-fan
Producer: 20130314
In:
Zhonghua er ke za zhi = Chinese journal of pediatrics vol. 50
Availability: No items available.
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1318.
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Long-term safety and efficacy of glycerol phenylbutyrate for the management of urea cycle disorder patients. [electronic resource] by
- Diaz, George A
- Schulze, Andreas
- Longo, Nicola
- Rhead, William
- Feigenbaum, Annette
- Wong, Derek
- Merritt, J Lawrence
- Berquist, William
- Gallagher, Renata C
- Bartholomew, Dennis
- McCandless, Shawn E
- Smith, Wendy E
- Harding, Cary O
- Zori, Roberto
- Lichter-Konecki, Uta
- Vockley, Jerry
- Canavan, Colleen
- Vescio, Thomas
- Holt, Robert J
- Berry, Susan A
Producer: 20200417
In:
Molecular genetics and metabolism vol. 127
Availability: No items available.
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1319.
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Surgical treatment for an extrahepatic portosystemic shunt: a case report. [electronic resource] by
- Hotta, Tsukasa
- Kobayashi, Yasuhito
- Taniguchi, Katsutoshi
- Johata, Kiyofumi
- Sahara, Masaki
- Watanabe, Takashi
- Tanimura, Hiroshi
- Minakata, Hiroaki
- Tsunoi, Kazuyuki
- Tsubota, Yukari T
Producer: 20040921
In:
Hepato-gastroenterology vol. 51
Availability: No items available.
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1320.
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