(Q39965162)

16 September 2017

1 reference

title

The Hereditary Renal Diseases (English)

1 reference

https://api.crossref.org/works/10.1056/NEJM196707202770305

12 March 2023

author name string

G. T. Perkoff

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A4861561

12 March 2023

language of work or name

English

0 references

publication date

1 July 1967

1 reference

full work available at URL

16 September 2017

http://www.nejm.org/doi/pdf/10.1056/NEJM196707202770305

1 reference

https://api.crossref.org/works/10.1056/NEJM196707202770305

The New England Journal of Medicine

12 March 2023

published in

1 reference

16 September 2017

volume

277

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16 September 2017

issue

3

1 reference

16 September 2017

page(s)

129-38 concl

1 reference

The pathogenesis of cystinuria. I. Chromatographic and microbiological studies of the metabolism of sulphur-containing amino-acids

16 September 2017

cites work

1

1 reference

https://api.crossref.org/works/10.1056/NEJM196707202770305

The pathogenesis of cystinuria. II. Polarographic studies of the metabolism of sulfur-containing amino-acids

12 March 2023

2

1 reference

https://api.crossref.org/works/10.1056/NEJM196707202770305

The intestinal absorption defect in cystinuria

12 March 2023

4

1 reference

https://api.crossref.org/works/10.1056/NEJM196707202770305

The absorption of cystine and cysteine from rat small intestine

12 March 2023

6

1 reference

https://api.crossref.org/works/10.1056/NEJM196707202770305

Active transport of lysine, ornithine, arginine and cystine by the intestine

12 March 2023

7

1 reference

https://api.crossref.org/works/10.1056/NEJM196707202770305

EVIDENCE AGAINST A SINGLE RENAL TRANSPORT DEFECT IN CYSTINURIA

12 March 2023

9

1 reference

https://api.crossref.org/works/10.1056/NEJM196707202770305

A common renal transport system for lysine, ornithine, arginine and cysteine

12 March 2023

10

1 reference

https://api.crossref.org/works/10.1056/NEJM196707202770305

Phenotypes and genotypes in cystinuria

12 March 2023

11

1 reference

https://api.crossref.org/works/10.1056/NEJM196707202770305

12 March 2023

Cystinuria

13

1 reference

https://api.crossref.org/works/10.1056/NEJM196707202770305

Hereditary pellagra-like skin rash with temporary cerebellar ataxia, constant renal amino-aciduria, and other bizarre biochemical features

12 March 2023

14

1 reference

https://api.crossref.org/works/10.1056/NEJM196707202770305

Glycinuria, a hereditary disorder associated with nephrolithiasis

12 March 2023

18

1 reference

https://api.crossref.org/works/10.1056/NEJM196707202770305

Glucoglycinuria, a new familial syndrome

12 March 2023

20

1 reference

https://api.crossref.org/works/10.1056/NEJM196707202770305

TREATMENT OF THE ADULT FANCONI SYNDROME WITH ORAL PHOSPHATE SUPPLEMENTS AND ALKALI. REPORT OF TWO CASES ASSOCIATED WITH NEPHROLITHIASIS

12 March 2023

22

1 reference

https://api.crossref.org/works/10.1056/NEJM196707202770305

Study of the mechanism of bone disease in hypophosphatemic glycosuric osteomalacia

12 March 2023

23

1 reference

https://api.crossref.org/works/10.1056/NEJM196707202770305

The excretion of amino acids by the human; a quantitative study with ion-exchange chromatography

12 March 2023

27

1 reference

https://api.crossref.org/works/10.1056/NEJM196707202770305

The nature of the renal lesion in the Fanconi syndrome

12 March 2023

30

1 reference

https://api.crossref.org/works/10.1056/NEJM196707202770305

Microdissection of the nephron in disease

12 March 2023

31

1 reference

https://api.crossref.org/works/10.1056/NEJM196707202770305

Adult cystinosis—A benign disorder

12 March 2023

32

1 reference

https://api.crossref.org/works/10.1056/NEJM196707202770305

The genetics of cystinuria

12 March 2023

37

1 reference

https://api.crossref.org/works/10.1056/NEJM196707202770305

Fanconi syndrome with hypouricemia in an adult: family study

12 March 2023

38

1 reference

https://api.crossref.org/works/10.1056/NEJM196707202770305

A genetic study of familial hypophosphatemia and vitamin D resistant rickets with a review of the literature.

12 March 2023

39

1 reference

https://api.crossref.org/works/10.1056/NEJM196707202770305

The effects of parathyroid extract on renal function in man.

12 March 2023

42

1 reference

https://api.crossref.org/works/10.1056/NEJM196707202770305

THE EFFECT OF VITAMIN D ON CALCIUM AND PHOSPHORUS METABOLISM; STUDIES ON FOUR PATIENTS.

12 March 2023

46

1 reference

https://api.crossref.org/works/10.1056/NEJM196707202770305

Diabetes mellitus and preexisting renal glucosuria

12 March 2023

50

1 reference

https://api.crossref.org/works/10.1056/NEJM196707202770305

DISORDERS of renal tubular function

12 March 2023

53

1 reference

https://api.crossref.org/works/10.1056/NEJM196707202770305

CORRELATION OF STRUCTURE AND FUNCTION IN THE HANDLING OF GLUCOSE BY THE NEPHRONS OF THE CANINE KIDNEY.

12 March 2023

54

1 reference

https://api.crossref.org/works/10.1056/NEJM196707202770305

Clinical patterns of tubular dysfunction.

12 March 2023

55

1 reference

https://api.crossref.org/works/10.1056/NEJM196707202770305

Further studies on pseudo-hypoparathyroidism: report of four new cases

12 March 2023

60

1 reference

https://api.crossref.org/works/10.1056/NEJM196707202770305

Pseudohypoparathyroidism with Secondary Hyperparathyroidism and Osteitis Fibrosa*

12 March 2023

61

1 reference

https://api.crossref.org/works/10.1056/NEJM196707202770305

12 March 2023

Thyrocalcitonin

62

1 reference

https://api.crossref.org/works/10.1056/NEJM196707202770305

Albright's hereditary osteodystrophy comprising pseudohypoparathyroidism and pseudo-pseudohypoparathyroidism. With a report of two cases representing the complete syndrome occurring in successive generations

12 March 2023

63

1 reference

https://api.crossref.org/works/10.1056/NEJM196707202770305

Albright's hereditary osteodystrophy. Report of a family with studies of bone remodeling

12 March 2023

64

1 reference

https://api.crossref.org/works/10.1056/NEJM196707202770305

Studies on renal enzymes in a patient with renal tubular acidosis

12 March 2023

69

1 reference

https://api.crossref.org/works/10.1056/NEJM196707202770305

Observations on the pathogenesis of renal tubular acidosis

12 March 2023

71

1 reference

https://api.crossref.org/works/10.1056/NEJM196707202770305

Renal hyperchloremic acidosis; familial occurrence of nephrocalcinosis with hyperchloremia and low serum bicarbonate

12 March 2023

72

1 reference

https://api.crossref.org/works/10.1056/NEJM196707202770305

Familial renal tubular acidosis

12 March 2023

73

1 reference

https://api.crossref.org/works/10.1056/NEJM196707202770305

Role of Hyaluronidase in the Re-Absorption of Water in Renal Tubules: The Mechanism of Action of the Antidiuretic Hormone

12 March 2023

79

1 reference

https://api.crossref.org/works/10.1056/NEJM196707202770305

ON THE MECHANISM OF ACTION OF THE ANTIDIURETIC HORMONE (VASOPRESSIN).

12 March 2023

83

1 reference

https://api.crossref.org/works/10.1056/NEJM196707202770305

12 March 2023

84

1 reference

https://api.crossref.org/works/10.1056/NEJM196707202770305

Chlorothiazid in Diabetes Insipidus

12 March 2023

85

1 reference

https://api.crossref.org/works/10.1056/NEJM196707202770305

THE MECHANISM OF ANTIDIURESIS ASSOCIATED WITH THE ADMINISTRATION OF HYDROCHLOROTHIAZIDE TO PATIENTS WITH VASOPRESSIN-RESISTANT DIABETES INSIPIDUS

12 March 2023

86

1 reference

https://api.crossref.org/works/10.1056/NEJM196707202770305

Nephrogenic diabetes insipidus; transmitted by females and appearing during infancy in males

12 March 2023

87

1 reference

https://api.crossref.org/works/10.1056/NEJM196707202770305

The carrier state in nephrogenic diabetes insipidus

12 March 2023

88

1 reference

https://api.crossref.org/works/10.1056/NEJM196707202770305

Ein Beitrag zur Kenntniss der Purpura haemorrhagica nodularis (Purpura papulosa haemorrhagica Hebrae)

12 March 2023

92

1 reference

https://api.crossref.org/works/10.1056/NEJM196707202770305

Angiokeratoma corporis diffusum universale (Fabry); first American report of a rare disorder

12 March 2023

93

1 reference

https://api.crossref.org/works/10.1056/NEJM196707202770305

Fabry's disease. Its ocular manifestations

12 March 2023

96

1 reference

https://api.crossref.org/works/10.1056/NEJM196707202770305

Fabry's disease (angiokeratoma corporis diffusum): case report on a rare disease

12 March 2023

100

1 reference

https://api.crossref.org/works/10.1056/NEJM196707202770305

Arthro-onychodysplasia; hereditary syndrome involving deformity of head of radius, absence of patellas, posterior iliac spurs, dystrophy of finger nails

12 March 2023

101

1 reference

https://api.crossref.org/works/10.1056/NEJM196707202770305

Renal dysplasia in a family with multiple hereditary abnormalities including iliac horns

12 March 2023

102

1 reference

https://api.crossref.org/works/10.1056/NEJM196707202770305

HEREDITARY OSTEO-ONYCHO-DYSPLASIA (HOOD)

12 March 2023

103

1 reference

https://api.crossref.org/works/10.1056/NEJM196707202770305

THE NEPHROPATHY OF HEREDITARY OSTEO-ONYCHODYSPLASIA

12 March 2023

104

1 reference

https://api.crossref.org/works/10.1056/NEJM196707202770305

The hereditary nephropathy of osteo-onychodysplasia. Nail-patella syndrome

12 March 2023

105

1 reference

https://api.crossref.org/works/10.1056/NEJM196707202770305

Genetical linkage between the ABO and nail-patella loci

12 March 2023

106

1 reference

https://api.crossref.org/works/10.1056/NEJM196707202770305

Hereditary unilateral hydronephrosis

12 March 2023

107

1 reference

https://api.crossref.org/works/10.1056/NEJM196707202770305

Hypernephroma-familial occurrence in one family

12 March 2023

109

1 reference

https://api.crossref.org/works/10.1056/NEJM196707202770305

Gene action in the X-chromosome of the mouse (Mus musculus L.)

12 March 2023

110

1 reference

https://api.crossref.org/works/10.1056/NEJM196707202770305

On the X chromosome of man

12 March 2023

111

1 reference

https://api.crossref.org/works/10.1056/NEJM196707202770305

12 March 2023

Identifiers

1 reference

16 September 2017

1 reference