Concepedia

Mutations in antiquitin in individuals with pyridoxine-dependent seizures

Philippa B. Mills, Eduard A. Struys, Cornelis Jakobs, Barbara Plecko, Peter Baxter, Matthias R. Baumgartner, Michèl A.A.P. Willemsen, Heymut Omran, Uta Tacke, Birgit Uhlenberg,

Nature Medicine · 2006 · 547 citations · 12 references

DOI

Concepts

References

12

Relationships within the aldehyde dehydrogenase extended family

John Perozich, Hugh B. Nicholas, Bi‐Cheng Wang et al. · Protein Science · 1999 · 285 citations · Full text

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Pyridoxal Phosphate De-activation by Pyrroline-5-carboxylic Acid

R. Duncan Farrant, Valerie Walker, Graham A. Mills et al. · Journal of Biological Chemistry · 2001 · 122 citations · Full text

, , +5

Pyridoxine dependent epilepsy: a suggestive electroclinical pattern

Rima Nabbout, Christine Soufflet, P. Plouin et al. · Archives of Disease in Childhood Fetal & Neonatal · 1999 · 97 citations · Full text

, , +13

Pyridoxal phosphate is better than pyridoxine for controlling idiopathic intractable epilepsy

HS Wang · Archives of Disease in Childhood · 2005 · 89 citations · Full text

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Pipecolic acid elevation in plasma and cerebrospinal fluid of two patients with pyridoxine-dependent epilepsy

Barbara Plecko, Sylvia St�ckler-Ipsiroglu, Eduard Paschke et al. · Annals of Neurology · 2000 · 87 citations

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