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Complex Glycerol Kinase Deficiency and Adrenocortical Insufficiency in Two Neonates.

Complex Glycerol Kinase Deficiency and Adrenocortical Insufficiency in Two Neonates.

http://www.wikidata.org/entity/Q37542286

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Complex Glycerol Kinase Deficiency and Adrenocortical Insufficiency in Two Neonates.

http://www.wikidata.org/entity/Q37542286

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article científic

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article scientifique

@fr

articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on 18 April 2016

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vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

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name

Complex Glycerol Kinase Deficiency and Adrenocortical Insufficiency in Two Neonates.

@en

Complex Glycerol Kinase Deficiency and Adrenocortical Insufficiency in Two Neonates.

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type

label

Complex Glycerol Kinase Deficiency and Adrenocortical Insufficiency in Two Neonates.

@en

Complex Glycerol Kinase Deficiency and Adrenocortical Insufficiency in Two Neonates.

@nl

prefLabel

Complex Glycerol Kinase Deficiency and Adrenocortical Insufficiency in Two Neonates.

@en

Complex Glycerol Kinase Deficiency and Adrenocortical Insufficiency in Two Neonates.

@nl

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Journal of clinical research in pediatric endocrinology

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Complex Glycerol Kinase Deficiency and Adrenocortical Insufficiency in Two Neonates.

@en

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Charalampos Lyssikatos

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Margarita Raygada

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Mustafa Kendirci

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Nihal Hatipoğlu

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Osman Baştuğ

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Sabriye Korkut

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Selim Kurtoğlu

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P2860

A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans

DAX1: Increasing complexity in the roles of this novel nuclear receptor

Familial occurrence of the IMAGe association: additional clinical variants and a proposed mode of inheritance.

Adrenal hypoplasia congenita with hypogonadotropic hypogonadism: evidence that DAX-1 mutations lead to combined hypothalmic and pituitary defects in gonadotropin production

Complex glycerol kinase deficiency - X-linked contiguous gene syndrome involving congenital adrenal hypoplasia, glycerol kinase deficiency, muscular Duchenne dystrophy and intellectual disability (IL1RAPL gene deletion).

The diagnostic difficulties of complex glycerol kinase deficiency.

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468-471

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scholarly article

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10.4274/JCRPE.2539

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4

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8

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Constantine A Stratakis

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2016-04-18T00:00:00Z

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27087023

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5198007

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