(Q43668208)

25 November 2017

Fanconi syndrome, ichthyosis, dysmorphism, jaundice and diarrhoea--a new syndrome (English)

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25 November 2017

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J E Deal

1

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25 November 2017

T M Barratt

series ordinal

2

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25 November 2017

M J Dillon

series ordinal

3

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25 November 2017

1 July 1990

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25 November 2017

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25 November 2017

4

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25 November 2017

4

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25 November 2017

308-313

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https://scigraph.springernature.com/pub.10.1007/bf00862505

25 November 2017

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cites work

Hereditary mitochondrial myopathy with lactic acidemia, a De Toni-Fanconi-Debré syndrome, and a defective respiratory chain in voluntary striated muscles

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12 December 2020

Gray platelet syndrome. A variety of qualitative platelet disorder

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12 December 2020

Congenital ichthyosis, mental retardation, dwarfism and renal impairment: A new syndrome

1 reference

12 December 2020

Familial ichthyosis, dwarfism, mental retardation, and renal disease

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12 December 2020

Electron microscopic and functional studies on platelets in gray platelet syndrome

1 reference

12 December 2020

NETHERTON'S DISEASE; TRICHORRHEXIS INVAGINATA (BAMBOO HAIR), CONGENITAL ICHTHYOSIFORM ERYTHRODERMA AND THE ATOPIC DIATHESIS. A HISTOPATHOLOGIC STUDY

1 reference

12 December 2020

Gray platelet syndrome: alpha-granule deficiency. Its influence on platelet function

1 reference

12 December 2020

Sjogren-Larsson syndrome and histidinemia: hereditary biochemical diseases with defects of speech and oral functions.

1 reference

12 December 2020

Familial Fanconi syndrome with malabsorption and galactose intolerance, normal kinase and transferase activity. A report on two siblings

1 reference

12 December 2020

Biochemical studies of two patients with the gray platelet syndrome. Selective deficiency of platelet alpha granules

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12 December 2020

The Fanconi syndrome and mechanisms of tubular transport dysfunction

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12 December 2020

Ultrastructural studies of the gray platelet syndrome

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12 December 2020

A syndrome characterized by congenital ichthyosis with atrophy, mental retardation, dwarfism, and generalized aminoaciduria

1 reference

12 December 2020

Morphological and biochemical confirmation of gray platelet syndrome in two siblings

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00862505

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Dimensions Publication ID

25 November 2017

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