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Phenotypic and genotypic spectrum of Turkish patients with isovaleric acidemia. [electronic resource] by
- Ozgul, Rıza Koksal
- Karaca, Mehmet
- Kilic, Mustafa
- Kucuk, Ozgul
- Yucel-Yilmaz, Didem
- Unal, Ozlem
- Hismi, Burcu
- Aliefendioglu, Didem
- Sivri, Serap
- Tokatli, Aysegul
- Coskun, Turgay
- Dursun, Ali
Producer: 20150612
In:
European journal of medical genetics vol. 57
Availability: No items available.
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Essential fatty acid profiling for routine nutritional assessment unmasks adrenoleukodystrophy in an infant with isovaleric acidaemia. [electronic resource] by
- Bonilla Guerrero, R
- Wolfe, L A
- Payne, N
- Tortorelli, S
- Matern, D
- Rinaldo, P
- Gavrilov, D
- Melan, M
- He, M
- Steinberg, S J
- Raymond, G V
- Vockley, J
- Gibson, K M
Producer: 20120111
In:
Journal of inherited metabolic disease vol. 31 Suppl 2
Availability: No items available.
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Genotype-phenotype correlation in patients with isovaleric acidaemia: comparative structural modelling and computational analysis of novel variants. [electronic resource] by
- Zaki, Osama K
- Priya Doss C, George
- Ali, Salsabil A
- Murad, Ghadeer G
- Elashi, Shaima A
- Ebnou, Maryam S A
- Kumar D, Thirumal
- Khalifa, Ola
- Gamal, Radwa
- El Abd, Heba S A
- Nasr, Bilal N
- Zayed, Hatem
Producer: 20180117
In:
Human molecular genetics vol. 26
Availability: No items available.
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