Hyperpipecolic acidemia: Clinical and biochemical observations in two male siblings (Q42270073)

19 October 2017

title

Hyperpipecolic acidemia: clinical and biochemical observations in two male siblings (English)

1 reference

19 October 2017

Hyperpipecolic acidemia: Clinical and biochemical observations in two male siblings (English)

1 reference

https://api.crossref.org/works/10.1016/S0022-3476(81)80393-9

22 April 2024

1 reference

1 reference

B. K. Burton

1

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7299546

22 April 2024

S. P. Reed

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7299546

22 April 2024

W. T. Remy

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7299546

22 April 2024

language of work or name

English

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publication date

1 November 1981

1 reference

full work available at URL

19 October 2017

https://api.elsevier.com/content/article/PII:S0022347681803939?httpAccept=text/xml

1 reference

https://api.crossref.org/works/10.1016/S0022-3476(81)80393-9

https://api.elsevier.com/content/article/PII:S0022347681803939?httpAccept=text/plain

22 April 2024

1 reference

https://api.crossref.org/works/10.1016/S0022-3476(81)80393-9

The Journal of Pediatrics

22 April 2024

published in

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19 October 2017

volume

99

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19 October 2017

issue

5

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19 October 2017

page(s)

729-734

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

19 October 2017

cites work

1 reference

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

7 January 2021

1 reference

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

7 January 2021

1 reference

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2881%2980393-9

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2881%2980393-9

Excretion of Pipecolic Acid by Infants and by Patients with Hyperlysinemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2881%2980393-9

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2881%2980393-9

production of piperidine from pipecolic acid in the rat

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2881%2980393-9

inferred from DOI database lookup

7 January 2021

based on heuristic

Protein measurement with the Folin phenol reagent

6

1 reference

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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

22 April 2024

8

1 reference

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Pipecolic acid: origin, biosynthesis and metabolism in the brain

22 April 2024

10

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22 April 2024

Identifiers

1 reference

19 October 2017

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