Results
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61.
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62.
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63.
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3-hydroxyacyl-coenzyme a dehydrogenase deficiency: identification of a new mutation causing hyperinsulinemic hypoketotic hypoglycemia, altered organic acids and acylcarnitines concentrations. [electronic resource] by
- Popa, Florina Ion
- Perlini, Silvia
- Teofoli, Francesca
- Degani, Daniela
- Funghini, Silvia
- La Marca, Giancarlo
- Rinaldo, Piero
- Vincenzi, Monica
- Antoniazzi, Franco
- Boner, Attilio
- Camilot, Marta
Producer: 20130225
In:
JIMD reports vol. 2
Availability: No items available.
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64.
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65.
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66.
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67.
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68.
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69.
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Three Japanese Patients with Beta-Ketothiolase Deficiency Who Share a Mutation, c.431A>C (H144P) in ACAT1 : Subtle Abnormality in Urinary Organic Acid Analysis and Blood Acylcarnitine Analysis Using Tandem Mass Spectrometry. [electronic resource] by
- Fukao, Toshiyuki
- Maruyama, Shinsuke
- Ohura, Toshihiro
- Hasegawa, Yuki
- Toyoshima, Mitsuo
- Haapalainen, Antti M
- Kuwada, Naomi
- Imamura, Mari
- Yuasa, Isao
- Wierenga, Rik K
- Yamaguchi, Seiji
- Kondo, Naomi
Producer: 20130225
In:
JIMD reports vol. 3
Availability: No items available.
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70.
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71.
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72.
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73.
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Deficiency of Subunit 6 of the Conserved Oligomeric Golgi Complex (COG6-CDG): Second Patient, Different Phenotype. [electronic resource] by
- Huybrechts, S
- De Laet, C
- Bontems, P
- Rooze, S
- Souayah, H
- Sznajer, Y
- Sturiale, L
- Garozzo, D
- Matthijs, G
- Ferster, A
- Jaeken, J
- Goyens, P
Producer: 20130225
In:
JIMD reports vol. 4
Availability: No items available.
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74.
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75.
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Mutation Profile of the MUT Gene in Chinese Methylmalonic Aciduria Patients. [electronic resource] by
- Liu, Mei-Ying
- Liu, Tze-Tze
- Yang, Yang-Ling
- Chang, Ying-Chen
- Fan, Ya-Ling
- Lee, Shu-Fen
- Teng, Yu-Ting
- Chiang, Szu-Hui
- Niu, Dau-Ming
- Lin, Shio-Jean
- Chao, Mei-Chun
- Lin, Shuan-Pei
- Han, Lian-Shu
- Qi, Yu
- Hsiao, Kwang-Jen
Producer: 20130225
In:
JIMD reports vol. 6
Availability: No items available.
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76.
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77.
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78.
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Mutation spectrum of fumarylacetoacetase gene and clinical aspects of tyrosinemia type I disease. [electronic resource] by
- Dursun, A
- Ozgül, R K
- Sivri, S
- Tokatlı, A
- Güzel, A
- Mesci, L
- Kılıç, M
- Aliefendioglu, D
- Ozçay, F
- Gündüz, M
- Coşkun, T
Producer: 20130225
In:
JIMD reports vol. 1
Availability: No items available.
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79.
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First report of a molecular prenatal diagnosis in a tunisian family with lysinuric protein intolerance. [electronic resource] by
- Esseghir, Nadia
- Bouchlaka, Chiraz Souissi
- Fredj, Sondess Hadj
- Chehida, Amel Ben
- Azzouz, Hatem
- Fontaine, Monique
- Tebib, Neji
- Dridi, Marie Françoise Ben
- Briand, Gilbert
- Messaoud, Taieb
- Elgaaied, Amel Ben Ammar
- Kaabachi, Naziha
Producer: 20130225
In:
JIMD reports vol. 1
Availability: No items available.
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80.
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Relevance of expanded neonatal screening of medium-chain acyl co-a dehydrogenase deficiency: outcome of a decade in galicia (Spain). [electronic resource] by
- Couce, M L
- Castiñeiras, D E
- Moure, J D
- Cocho, J A
- Sánchez-Pintos, P
- García-Villoria, J
- Quelhas, D
- Gregersen, N
- Andresen, B S
- Ribes, A
- Fraga, J M
Producer: 20130225
In:
JIMD reports vol. 1
Availability: No items available.
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