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241.
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Infantile Refsum Disease: Influence of Dietary Treatment on Plasma Phytanic Acid Levels. [electronic resource] by
- Sá, Maria João Nabais
- Rocha, Júlio C
- Almeida, Manuela F
- Carmona, Carla
- Martins, Esmeralda
- Miranda, Vasco
- Coutinho, Miguel
- Ferreira, Rita
- Pacheco, Sara
- Laranjeira, Francisco
- Ribeiro, Isaura
- Fortuna, Ana Maria
- Lacerda, Lúcia
Producer: 20160512
In:
JIMD reports vol. 26
Availability: No items available.
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242.
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243.
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245.
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Seizures Due to a KCNQ2 Mutation: Treatment with Vitamin B6. [electronic resource] by
- Reid, Emma S
- Williams, Hywel
- Stabej, Polona Le Quesne
- James, Chela
- Ocaka, Louise
- Bacchelli, Chiara
- Footitt, Emma J
- Boyd, Stewart
- Cleary, Maureen A
- Mills, Philippa B
- Clayton, Peter T
Producer: 20160512
In:
JIMD reports vol. 27
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246.
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Renal Involvement in a French Paediatric Cohort of Patients with Lysinuric Protein Intolerance. [electronic resource] by
- Nicolas, C
- Bednarek, N
- Vuiblet, V
- Boyer, O
- Brassier, A
- De Lonlay, P
- Galmiche, L
- Krug, P
- Baudouin, V
- Pichard, S
- Schiff, M
- Pietrement, C
Publication details: JIMD reports 2016
In:
JIMD reports vol. 29
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247.
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248.
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Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic Acidemia. [electronic resource] by
- Imtiaz, Faiqa
- Al-Mubarak, Bashayer M
- Al-Mostafa, Abeer
- Al-Hamed, Mohamed
- Allam, Rabab
- Al-Hassnan, Zuhair
- Al-Owain, Mohammed
- Al-Zaidan, Hamad
- Rahbeeni, Zuhair
- Qari, Alya
- Faqeih, Eissa Ali
- Alasmari, Ali
- Al-Mutairi, Fuad
- Alfadhel, Majid
- Eyaid, Wafaa M
- Rashed, Mohamed S
- Al-Sayed, Moeenaldeen
Publication details: JIMD reports 2016
In:
JIMD reports vol. 29
Availability: No items available.
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249.
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Four Years of Diagnostic Challenges with Tetrahydrobiopterin Deficiencies in Iranian Patients. [electronic resource] by
- Khatami, Shohreh
- Dehnabeh, Soghra Rouhi
- Zeinali, Sirous
- Thöny, Beat
- Alaei, Mohammadreza
- Salehpour, Shadab
- Setoodeh, Aria
- Rohani, Farzaneh
- Hajivalizadeh, Fatemeh
- Samavat, Ashraf
Publication details: JIMD reports 2017
In:
JIMD reports vol. 32
Availability: No items available.
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250.
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Identification of Cryptic Novel α-Galactosidase A Gene Mutations: Abnormal mRNA Splicing and Large Deletions. [electronic resource] by
- Higuchi, Takashi
- Kobayashi, Masahisa
- Ogata, Jin
- Kaneshiro, Eiko
- Shimada, Yohta
- Kobayashi, Hiroshi
- Eto, Yoshikatsu
- Maeda, Shiro
- Ohtake, Akira
- Ida, Hiroyuki
- Ohashi, Toya
Publication details: JIMD reports 2016
In:
JIMD reports vol. 30
Availability: No items available.
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251.
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252.
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253.
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254.
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255.
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256.
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257.
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258.
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Incidence and Geographic Distribution of Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency. [electronic resource] by
- Attri, Savita Verma
- Singhi, Pratibha
- Wiwattanadittakul, Natrujee
- Goswami, Jyotindra N
- Sankhyan, Naveen
- Salomons, Gajja S
- Roullett, Jean-Baptiste
- Hodgeman, Ryan
- Parviz, Mahsa
- Gibson, K Michael
- Pearl, Phillip L
Publication details: JIMD reports 2017
In:
JIMD reports vol. 34
Availability: No items available.
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259.
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