(Q40167487)

18 September 2017

1 reference

title

Review: the cerebrohepatorenal syndrome of Zellweger, morphologic and metabolic aspects (English)

1 reference

18 September 2017

The cerebrohepatorenal syndrome of Zellweger, morphologic and metabolic aspects (English)

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320160409

Zellweger spectrum disorder

8 October 2023

main subject

1 reference

R. I. Kelley

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6362411

8 October 2023

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=6362411

8 October 2023

publication date

1 December 1983

1 reference

full work available at URL

18 September 2017

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fajmg.1320160409

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320160409

https://onlinelibrary.wiley.com/doi/full/10.1002/ajmg.1320160409

8 October 2023

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320160409

American Journal of Medical Genetics Part A

8 October 2023

published in

1 reference

18 September 2017

16

1 reference

18 September 2017

503-517

1 reference

18 September 2017

4

1 reference

The cerebro-hepato-renal (Zellweger's) syndrome: report of four cases

18 September 2017

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1320160409

The spectrum of the DiGeorge syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1320160409

The spectrum and diagnosis of acid maltase deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1320160409

The syndrome of systemic carnitine deficiency: Clinical, morphologic, biochemical, and pathophysiologic features

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1320160409

Cerebro-hepato-renal syndrome of Zellweger. Two patients with islet cell hyperplasia, hypoglycemia, and thymic anomalies, and comments on iron metabolism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1320160409

Roentgenographic features of the cerebrohepatorenal syndrome of Zellweger.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1320160409

Glycogen accumulation in the central nervous system in the cerebro-hepato-renal syndrome. Report of a case with ultrastructural studies

21 January 2018

1

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320160409

Cerebro-hepato-renal syndrome. Report of a case with histochemical and ultrastructural observations

8 October 2023

2

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320160409

Hypocarnitinemia in disorders of organic acid metabolism

8 October 2023

3

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320160409

Hyperpipecolic acidemia. Occurrence in an infant with clinical findings of the cerebrohepatorenal (Zellweger) syndrome

8 October 2023

4

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320160409

New form of adrenoleukodystrophy

8 October 2023

6

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320160409

Multiple acyl-CoA dehydrogenation deficiency (glutaric aciduria type II), congenital polycystic kidneys, and symmetric warty dysplasia of the cerebral cortex in two newborn brothers. II. Morphology and pathogenesis.

8 October 2023

7

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320160409

Bulletin of the Johns Hopkins Hospital

8 October 2023

8

114

402

Bowen

1964

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320160409

Hyperpipecolic acidemia: Clinical and biochemical observations in two male siblings

8 October 2023

11

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320160409

Screening for organic acidurias and amino acidopathies in newborns and children

8 October 2023

12

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320160409

Pipecolic acid pathway: The major lysine metabolic route in the rat brain

8 October 2023

13

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320160409

Lysine metabolism in the rat brain: blood-brain barrier transport, formation of pipecolic acid and human hyperpipecolatemia

8 October 2023

14

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320160409

Vitamin E deficiency as hepatic peroxisomal proliferator: Electron microscopic evidence

8 October 2023

17

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320160409

Cerebro-hepato-renal syndrome of Zellweger. A report of eight cases with comments upon the incidence, the liver lesion, and a fault in pipecolic acid metabolism

8 October 2023

18

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320160409

Peroxisomes (microbodies and related particles)

8 October 2023

19

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320160409

Trihydroxycoprostanic acid in the duodenal fluid of two children with intrahepatic bile duct anomalies

8 October 2023

21

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320160409

Clinicopathologic conference: a three-month-old infant with failure to thrive, hepatomegaly, and neurological impairment

8 October 2023

22

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320160409

L-Pipecolate formation in the mammalian brain. Regional distribution of delta1-pyrroline-2-carboxylate reductase activity

8 October 2023

23

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320160409

Studies of malformation syndromes of man XIB: the cerebro-hepato-renal syndrome of zellweger: Comparative pathology

8 October 2023

25

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320160409

The evaluation of infants with the Zellweger (cerebro-hepato-renal) syndrome*

8 October 2023

26

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320160409

Peroxisomal and mitochondrial defects in the cerebro-hepato-renal syndrome.

8 October 2023

28

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320160409

Multiple acyl-CoA dehydrogenase deficiency (glutaric aciduria type II) with transient hypersarcosinemia and sarcosinuria; possible inherited deficiency of an electron transfer flavoprotein

8 October 2023

30

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320160409

Glutaric acidemia type II: clinical, biochemical, and morphologic considerations

8 October 2023

31

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320160409

Cerebro-hepato-renal syndrome of Zellweger: clinical symptoms and relevant laboratory findings in 16 patients

8 October 2023

32

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320160409

The metabolism of D- and L-lysine in the intact rat, perfused liver and liver mitochondria.

8 October 2023

33

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320160409

Biosynthesis of cholic acid in rat liver: formation of cholic acid from 3 alpha, 7 alpha, 12 alpha-trihydroxy- and 3 alpha, 7 alpha, 12 alpha, 24-tetrahydroxy-5 beta-cholestanoic acids

8 October 2023

34

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320160409

Defects of Bile Acid Synthesis in Zellweger's Syndrome

8 October 2023

36

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320160409

NATURE OF THE HEPATOMEGALIC EFFECT PRODUCED BY ETHYL-CHLOROPHENOXY-ISOBUTYRATE IN THE RAT

8 October 2023

37

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320160409

Electrophoretic study of pipecolic acid, a biogenic imino acid, in the mammalian brain

8 October 2023

45

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320160409

Current concepts in genetics. Lysosomal storage diseases

8 October 2023

47

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320160409

Influence of hexose conditions on glutamine oxidation of SV-40-transformed and diploid fibroblast human cell lines.

8 October 2023

48

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320160409

A fatty acyl-CoA oxidizing system in rat liver peroxisomes; enhancement by clofibrate, a hypolipidemic drug

8 October 2023

50

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320160409

Multiple acyl-CoA dehydrogenation deficiency (glutaric aciduria type II), congenital polycystic kidneys, and symmetric warty dysplasia of the cerebral cortex in two brothers. I. Clinical, metabolical, and biochemical findings.

8 October 2023

51

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320160409

Could superoxide cause cirrhosis?

8 October 2023

52

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320160409

Biochimica et Biophysica Acta

8 October 2023

53

104

305

Matsui

1966

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320160409

Disturbances in bile acid metabolism of infants with the Zellweger (cerebro-hepato-renal) syndrome

8 October 2023

55

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320160409

The biological origin of ketotic dicarboxylic aciduria. In vivo and in vitro investigations of the omega-oxidation of C6-C16-monocarboxylic acids in unstarved, starved and diabetic rats

8 October 2023

56

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320160409

The biological origin of ketotic dicarboxylic aciduria. II. In vivo and in vitro investigations of the beta-oxidation of C8-C16-dicarboxylic acids in unstarved, starved and diabetic rats

8 October 2023

57

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320160409

Adrenoleukodystrophy: Elevated C26 fatty acid in cultured skin fibroblasts

8 October 2023

58

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320160409

Glycogen storage myopathy with abnormal lactate dehydrogenase.

8 October 2023

60

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320160409

Accumulation and metabolism of pipecolic acid in the brain and other organs of the mouse.

8 October 2023

61

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320160409

Cerebro-hepato-renal syndrome. A newly recognized hereditary disorder of multiple congenital defects, including sudanophilic leukodystrophy, cirrhosis of the liver, and polycystic kidneys.

8 October 2023

64

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320160409

Conversion of 3 alpha, 7 alpha, 12 alpha-trihydroxy-5 beta-cholestanoic acid into cholic acid by rat liver peroxisomes

8 October 2023

66

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320160409

The cerebro-hepato-renal syndrome (CHRS) (Zellweger's syndrome)

8 October 2023

67

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320160409

Glutaric aciduria type II: Report on a previously undescribed metabolic disorder

8 October 2023

68

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320160409

Glutaric aciduria type II: in vitro studies on substrate oxidation, acyl-CoA dehydrogenases, and electron-transferring flavoprotein in cultured skin fibroblasts

8 October 2023

69

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320160409

A syndrome of multiple developmental defects including polycystic kidneys and intrahepatic biliary dysgenesis in 2 siblings.

8 October 2023

70

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320160409

Friedreich ataxia: III. Mitochondrial malic enzyme deficiency.

8 October 2023

72

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320160409

Glutaric aciduria Type II

8 October 2023

73

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320160409

Pipecolic acid: a new type of alpha-amino acid possessing bicuculline-sensitive action in the mammalian brain.

8 October 2023

74

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320160409

Hyperpipecolic acidemia associated with hepatomegaly, mental retardation, optic nerve dysplasia and progressive neurological disease

8 October 2023

75

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320160409

Microbodies-Peroxisomes and Glyoxysomes

8 October 2023

76

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320160409

Metabolic pathways in peroxisomes and glyoxysomes

8 October 2023

77

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320160409

Microbodies: peroxisomes and glyoxysomes

8 October 2023

78

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320160409

Biochemical studies in the cerebro-hepato-renal syndrome of Zellweger: a disturbance in the metabolism of pipecolic acid.

8 October 2023

79

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320160409

A metabolic disorder similar to Zellweger syndrome with hepatic acatalasia and absence of peroxisomes, altered content and redox state of cytochromes, and infantile cirrhosis with hemosiderosis

8 October 2023

81

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320160409

Congenital and Familial Iron Overload

8 October 2023

82

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320160409

Excretion of Pipecolic Acid by Infants and by Patients with Hyperlysinemia

8 October 2023

85

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320160409

8 October 2023

Identifiers

1 reference

18 September 2017

1 reference