(Q39948169)

15 September 2017

1 reference

title

Disturbances of amino acid metabolism in clinical syndromes not characterised by a primary amino acidopathy (English)

1 reference

15 September 2017

Bremer HJ

1

1 reference

15 September 2017

Przyrembel H

series ordinal

2

1 reference

15 September 2017

publication date

1 March 1974

1 reference

Clinics in Endocrinology and Metabolism

15 September 2017

published in

1 reference

15 September 2017

volume

3

1 reference

15 September 2017

issue

1

1 reference

15 September 2017

page(s)

131-143

1 reference

Oculo-cerebro-renal syndrome. A review

15 September 2017

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0300-595X%2874%2980029-0

7 January 2021

An oculocerebral syndrome with aminoaciduria and keratosis follicularis

1 reference

https://api.crossref.org/works/10.1016%2FS0300-595X%2874%2980029-0

7 January 2021

Glycylproline peptiduria in familial hyperostosis of obscure nature

1 reference

https://api.crossref.org/works/10.1016%2FS0300-595X%2874%2980029-0

7 January 2021

Amino acids of serum and urine in familial amyloidotic polyneuropathy

1 reference

https://api.crossref.org/works/10.1016%2FS0300-595X%2874%2980029-0

7 January 2021

Amino Acids of Plasma and Urine in Diseases of Muscle

1 reference

https://api.crossref.org/works/10.1016%2FS0300-595X%2874%2980029-0

7 January 2021

Cerebral gigantism: concentrations of amino acids in plasma and muscle

1 reference

https://api.crossref.org/works/10.1016%2FS0300-595X%2874%2980029-0

7 January 2021

Reduced glutamic-acid-decarboxylase activity of post-mortem brain in Huntington's chorea

1 reference

https://api.crossref.org/works/10.1016%2FS0300-595X%2874%2980029-0

7 January 2021

Chromatographic studies of amino acids in sera and urine of patients with xeroderma pigmentosum and their normal relatives

1 reference

https://api.crossref.org/works/10.1016%2FS0300-595X%2874%2980029-0

7 January 2021

Amino acid, creatine and creatinine studies in myotonic dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0300-595X%2874%2980029-0

7 January 2021

Autosomal dominant inheritance and amino aciduria in Blackfan-Diamond anaemia

1 reference

https://api.crossref.org/works/10.1016%2FS0300-595X%2874%2980029-0

7 January 2021

The simultaneous occurrence of histidinemia and congenital hypoplastic anemia

1 reference

https://api.crossref.org/works/10.1016%2FS0300-595X%2874%2980029-0

7 January 2021

A syndrome resembling lathyrism associated with iminodipeptiduria

1 reference

https://api.crossref.org/works/10.1016%2FS0300-595X%2874%2980029-0

7 January 2021

A metabolic myopathy associated with chronic lactic acidemia, growth failure, and nerve deafness

1 reference

https://api.crossref.org/works/10.1016%2FS0300-595X%2874%2980029-0

7 January 2021

Xeroderma pigmentosum. A report on 6 cases in South African Bantu children

1 reference

https://api.crossref.org/works/10.1016%2FS0300-595X%2874%2980029-0

7 January 2021

Familial "mitochondrial" myopathy. A myopathy associated with disordered oxidative metabolism in muscle fibres. 1. Clinical, electrophysiological and pathological findings

1 reference

https://api.crossref.org/works/10.1016%2FS0300-595X%2874%2980029-0

7 January 2021

Urinary amino acids, creatinine and phosphate in muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0300-595X%2874%2980029-0

7 January 2021

Muscular dystrophy with a familial aminoaciduria of unusual pattern

1 reference

https://api.crossref.org/works/10.1016%2FS0300-595X%2874%2980029-0

7 January 2021

Clinical, biochemical and histopathological findings in a family with muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0300-595X%2874%2980029-0

7 January 2021

Congenital ophthalmoplegia, floppy baby syndrome, myopathy, and aminoaciduria. Report of a family

1 reference

https://api.crossref.org/works/10.1016%2FS0300-595X%2874%2980029-0

7 January 2021

Paper Chromatographic Survey of Urinary Amino-acids in Muscular Dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0300-595X%2874%2980029-0

7 January 2021

Amino Acid Abnormality in Sjogren-Larsson Syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0300-595X%2874%2980029-0

7 January 2021

Familial hyperostosis of obscure nature

1 reference

https://api.crossref.org/works/10.1016%2FS0300-595X%2874%2980029-0

7 January 2021

Biochemistry and physiology of taurine and taurine derivatives

1 reference

https://api.crossref.org/works/10.1016%2FS0300-595X%2874%2980029-0

7 January 2021

Hereditary Macular Degeneration and Amino-Aciduria

1 reference

https://api.crossref.org/works/10.1016%2FS0300-595X%2874%2980029-0

7 January 2021

Familial camptodactyly with taurinuria

1 reference

https://api.crossref.org/works/10.1016%2FS0300-595X%2874%2980029-0

7 January 2021

FAMILIAL STREBLODACTLY WITH AMINO-ACIDURIA.

1 reference

https://api.crossref.org/works/10.1016%2FS0300-595X%2874%2980029-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0300-595X%2874%2980029-0

7 January 2021

Technical pitfalls leading to errors in the quantitation of plasma amino acids.

1 reference

https://api.crossref.org/works/10.1016%2FS0300-595X%2874%2980029-0

7 January 2021

Plasma-aminoacid levels in Huntington's chorea

1 reference

https://api.crossref.org/works/10.1016%2FS0300-595X%2874%2980029-0

7 January 2021

Plasma amino acid levels in children of patients with Huntington's chorea

1 reference

https://api.crossref.org/works/10.1016%2FS0300-595X%2874%2980029-0

7 January 2021

Huntington's chorea. Deficiency of gamma-aminobutyric acid in brain

1 reference

https://api.crossref.org/works/10.1016%2FS0300-595X%2874%2980029-0

7 January 2021

Hypoprolinemia in parkinsonism; a case report

1 reference

https://api.crossref.org/works/10.1016%2FS0300-595X%2874%2980029-0

7 January 2021

A Heritable Disorder of Connective Tissue

1 reference

https://api.crossref.org/works/10.1016%2FS0300-595X%2874%2980029-0

7 January 2021

THE CORNELIA DE LANGE SYNDROME.

1 reference

https://api.crossref.org/works/10.1016%2FS0300-595X%2874%2980029-0

7 January 2021

Familial growth retardation, renal aminoaciduria and cor pulmonale. I. Description of a new syndrome, with case reports

1 reference

https://api.crossref.org/works/10.1016%2FS0300-595X%2874%2980029-0

7 January 2021

Abnormal levels of aspartic acid, serine and cystine in the plasma in three cases of Rubinstein Taybi's syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0300-595X%2874%2980029-0

7 January 2021

Renal function and morphology in a girl with oculocerebrorenal syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0300-595X%2874%2980029-0

7 January 2021

https://api.crossref.org/works/10.1016%2FS0300-595X%2874%2980029-0

1 reference

7 January 2021

"Lowe's syndrome". Abnormalities in renal tubular function in combination with other congenital defect

1 reference

https://api.crossref.org/works/10.1016%2FS0300-595X%2874%2980029-0

7 January 2021

Paper chromatographic studies of progressive muscular dystrophy as well as of other myopathies

1 reference

https://api.crossref.org/works/10.1016%2FS0300-595X%2874%2980029-0

7 January 2021

GLYCYL-PROLINE IN URINE OF HUMANS WITH BONE DISEASE

1 reference

https://api.crossref.org/works/10.1016%2FS0300-595X%2874%2980029-0

7 January 2021

Peptiduria in an unusual bone disorder. Isolation of two peptides

1 reference

https://api.crossref.org/works/10.1016%2FS0300-595X%2874%2980029-0

7 January 2021

The Sjögren-Larsson syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0300-595X%2874%2980029-0

7 January 2021

Raised plasma-ornithine and gyrate atrophy of the choroid and retina.

1 reference

https://api.crossref.org/works/10.1016%2FS0300-595X%2874%2980029-0

7 January 2021

Hereditary hyperphosphatasia. Studies of three siblings

1 reference

https://api.crossref.org/works/10.1016%2FS0300-595X%2874%2980029-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0300-595X%2874%2980029-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0300-595X%2874%2980029-0

7 January 2021

Lysosomal enzymes, amino acids and acid metabolites of amines in Huntington's chorea

1 reference

https://api.crossref.org/works/10.1016%2FS0300-595X%2874%2980029-0

7 January 2021

10.1016/S0300-595X(74)80029-0

Identifiers

DOI

1 reference

release_pe3rz6dx4zc5dfwjfrcyrhk7ly

15 September 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/pe3rz6dx4zc5dfwjfrcyrhk7ly

24 November 2022

mapped directly with Wikidata item

1 reference