scholarly journals Hereditary methaemoglobinaemia due to Cytochrome b-5 reductase deficiency—A case report

1997 ◽  
Vol 12 (2) ◽  
pp. 146-147
Author(s):  
U. K. Saha ◽  
I. Chakraborty ◽  
S. Ghosh ◽  
P. Banerjee ◽  
A. K. Chakrabarti
Keyword(s):  
Case Report ◽  
Cytochrome B ◽  
Reductase Deficiency

scholarly journals 5-α Reductase Deficiency in Two Siblings: A Case Report

2016 ◽  
Vol 7 (7) ◽  
pp. 263-265
Author(s):  
Ivana Capin ◽  
Mary Ryan
Keyword(s):  
Case Report ◽  
Reductase Deficiency

scholarly journals Dihydropteridine Reductase Deficiency and Treatment with Tetrahydrobiopterin: A Case Report

2012 ◽  
pp. 53-56 ◽  
Author(s):  
Curtis R. Coughlin ◽  
Keith Hyland ◽  
Rebecca Randall ◽  
Can Ficicioglu
Keyword(s):  
Case Report ◽  
Dihydropteridine Reductase ◽  
Reductase Deficiency

scholarly journals 5-alpha-reductase deficiency: a case report

2016 ◽  
Vol 43 (6) ◽  
pp. 234 ◽  
Author(s):  
Diana Mettadewi Jong ◽  
Aman B Pulungan ◽  
Bambang Tridjaja AAP ◽  
Jose RL Batubara
Keyword(s):  
Case Report ◽  
Male Pseudohermaphroditism ◽  
Reductase Deficiency

The condition of 5-alpha-reductase type 2deficiency (5-ARD) is an inherited disorderresulting in the inability to converttestosterone to dihydrotestosterone(DHT).This disorder was previously termed asfamilial incomplete male pseudohermaphroditism type2, pseudovaginal perineoscrotal hypospadias.Clinical manifestation of 5-ARD is limited to malegenetic. The affected males are usually identifiedas female in childhood but undergo striking virilizationat puberty.While overall incidence for various countries arenot established, increased incidence is reported in theDominican Republic, some highland tribes in NewGuinea, Lebanon and Turkey. This was the firstdocumented case in Cipto Mangunkusumo (CM)Hospital.

Congenital Methemoglobin- Reductase (Cytochrome b5 Reductase) Deficiency Associated with Mental Retardation in a Spanish Girl

1978 ◽  
Vol 59 (6) ◽  
pp. 348-353 ◽  
Author(s):  
J.L. Vives-Corrons ◽  
A. Pujades ◽  
E. Vela ◽  
J.M. Corretger ◽  
A. Leroux ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Cytochrome B ◽  
Reductase Deficiency

scholarly journals Clinical, metabolic, and genetic characterization of hereditary methemoglobinemia caused by cytochrome b 5 reductase deficiency in cats

2019 ◽  
Vol 33 (6) ◽  
pp. 2725-2731 ◽  
Author(s):  
Jared A. Jaffey ◽  
N. Scott Reading ◽  
Urs Giger ◽  
Osheiza Abdulmalik ◽  
Ruben M. Buckley ◽  
...  
Keyword(s):  
Cytochrome B ◽  
Genetic Characterization ◽  
Reductase Deficiency
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