Generalised deficiency of cytochrome b5 reductase in congenital methaemoglobinaemia with mental retardation

ALENA LEROUX; CLAUDINE JUNIEN; JEAN-CLAUDE KAPLAN; JACQUES BAMBERGER

doi:10.1038/258619a0

Generalised deficiency of cytochrome b5 reductase in congenital methaemoglobinaemia with mental retardation

Nature ◽

10.1038/258619a0 ◽

1975 ◽

Vol 258 (5536) ◽

pp. 619-620 ◽

Cited By ~ 84

Author(s):

ALENA LEROUX ◽

CLAUDINE JUNIEN ◽

JEAN-CLAUDE KAPLAN ◽

JACQUES BAMBERGER

Keyword(s):

Mental Retardation ◽

Cytochrome B5 ◽

Cytochrome B5 Reductase

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Lipids of myelin, white matter and gray matter in a case of generalized deficiency of cytochrome b5 reductase in congenital methemoglobinemia with mental retardation

Lipids ◽

10.1007/bf02535839 ◽

1980 ◽

Vol 15 (4) ◽

pp. 272-275 ◽

Cited By ~ 14

Author(s):

H. Hirono

Keyword(s):

Mental Retardation ◽

White Matter ◽

Gray Matter ◽

Cytochrome B5 ◽

Cytochrome B5 Reductase

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Cytochrome B5 reductase deficiency and mental retardation

American Journal of Hematology ◽

10.1002/ajh.2830430319 ◽

1993 ◽

Vol 43 (3) ◽

pp. 243-244

Author(s):

Şinasi Özsoylu

Keyword(s):

Mental Retardation ◽

Cytochrome B5 ◽

Reductase Deficiency ◽

Cytochrome B5 Reductase

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Prenatal diagnosis of congenital enzymopenic methaemoglobinaemia with mental retardation due to generalized cytochrome b5 reductase deficiency: First report of two cases

Prenatal Diagnosis ◽

10.1002/pd.1970010106 ◽

1981 ◽

Vol 1 (1) ◽

pp. 17-24 ◽

Cited By ~ 4

Author(s):

C. Junien ◽

A. Leroux ◽

D. Lostanlen ◽

A. Reghis ◽

J. Boue ◽

...

Keyword(s):

Mental Retardation ◽

Prenatal Diagnosis ◽

Cytochrome B5 ◽

First Report ◽

Reductase Deficiency ◽

Cytochrome B5 Reductase

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Adipose fatty acid composition in a case of generalized deficiency of cytochrome b5 reductase in congenital methemoglobinemia with mental retardation.

The Tohoku Journal of Experimental Medicine ◽

10.1620/tjem.140.391 ◽

1983 ◽

Vol 140 (4) ◽

pp. 391-394 ◽

Cited By ~ 4

Author(s):

HARUKO HIRONO

Keyword(s):

Mental Retardation ◽

Fatty Acid Composition ◽

Fatty Acid ◽

Acid Composition ◽

Cytochrome B5 ◽

Cytochrome B5 Reductase

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Alteration of NADH-diaphorase and cytochrome b5 reductase activities of erythrocytes, platelets, and leucocytes in hereditary methaemoglobinaemia with and without mental retardation.

Journal of Medical Genetics ◽

10.1136/jmg.19.3.204 ◽

1982 ◽

Vol 19 (3) ◽

pp. 204-209 ◽

Cited By ~ 9

Author(s):

M Takeshita ◽

T Matsuki ◽

K Tanishima ◽

T Yubisui ◽

Y Yoneyama ◽

...

Keyword(s):

Mental Retardation ◽

Cytochrome B5 ◽

Cytochrome B5 Reductase ◽

Nadh Diaphorase

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Lipids of liver, kidney, spleen and muscle in a case of generalized deficiency of cytochrome b5 reductase in congenital methemoglobinemia with mental retardation

Lipids ◽

10.1007/bf02534610 ◽

1984 ◽

Vol 19 (1) ◽

pp. 60-63 ◽

Cited By ~ 5

Author(s):

Haruko Hirono

Keyword(s):

Mental Retardation ◽

Cytochrome B5 ◽

Cytochrome B5 Reductase

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Severe mental retardation and recessive congenital methemoglobinemia in three Indian patients: Compound heterozygous for NADH-cytochrome b5 reductase gene mutations

American Journal of Hematology ◽

10.1002/ajh.21956 ◽

2011 ◽

Vol 86 (3) ◽

pp. 327-329 ◽

Cited By ~ 14

Author(s):

Prabhakar S. Kedar ◽

Prashant Warang ◽

Kanjaksha Ghosh ◽

Roshan B. Colah

Keyword(s):

Mental Retardation ◽

Cytochrome B5 ◽

Gene Mutations ◽

Compound Heterozygous ◽

Severe Mental Retardation ◽

Cytochrome B5 Reductase ◽

Indian Patients ◽

Reductase Gene ◽

Nadh Cytochrome

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A Form of Reduced Nicotinamide Adenine Dinucleotide-Cytochrome b5 Reductase Containing Both the Catalytic Site and an Additional Hydrophobic Membrane-binding Segment

Journal of Biological Chemistry ◽

10.1016/s0021-9258(19)44337-8 ◽

1973 ◽

Vol 248 (3) ◽

pp. 793-799 ◽

Cited By ~ 17

Author(s):

Lawrence Spatz ◽

Philipp Strittmatter

Keyword(s):

Nicotinamide Adenine Dinucleotide ◽

Cytochrome B5 ◽

Membrane Binding ◽

Catalytic Site ◽

Nicotinamide Adenine ◽

Hydrophobic Membrane ◽

Cytochrome B5 Reductase ◽

Reduced Nicotinamide Adenine Dinucleotide

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Crystallization and preliminary x-ray crystallographic study of NADH-cytochrome b5 reductase from pig liver microsomes.

Journal of Biological Chemistry ◽

10.1016/s0021-9258(18)60883-x ◽

1987 ◽

Vol 262 (24) ◽

pp. 11801-11802

Author(s):

K Miki ◽

S Kaida ◽

N Kasai ◽

T Iyanagi ◽

K Kobayashi ◽

...

Keyword(s):

Cytochrome B5 ◽

Liver Microsomes ◽

Pig Liver ◽

X Ray ◽

Cytochrome B5 Reductase ◽

Crystallographic Study ◽

Nadh Cytochrome

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The Reaction Sequence in Electron Transfer in the Reduced Nicotinamide Adenine Dinucleotide-Cytochrome b5 Reductase System

Journal of Biological Chemistry ◽

10.1016/s0021-9258(18)97086-9 ◽

1965 ◽

Vol 240 (11) ◽

pp. 4481-4487 ◽

Cited By ~ 6

Author(s):

Philipp Strittmatter

Keyword(s):

Electron Transfer ◽

Nicotinamide Adenine Dinucleotide ◽

Cytochrome B5 ◽

Nicotinamide Adenine ◽

Reaction Sequence ◽

Cytochrome B5 Reductase ◽

Reduced Nicotinamide Adenine Dinucleotide

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