(Q37944038)

25 August 2017

title

Natural history of propionic acidemia (English)

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25 August 2017

17

Marshall L Summar

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25 August 2017

Loren Pena

1

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25 August 2017

Jill Franks

2

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25 August 2017

Kimberly A Chapman

3

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25 August 2017

Andrea Gropman

4

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25 August 2017

Nicholas Ah Mew

5

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25 August 2017

Anupam Chakrapani

6

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25 August 2017

Eddie Island

7

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25 August 2017

Erin MacLeod

8

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25 August 2017

Dietrich Matern

9

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25 August 2017

Brittany Smith

10

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25 August 2017

Kathy Stagni

11

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25 August 2017

V Reid Sutton

12

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25 August 2017

Keiko Ueda

13

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25 August 2017

Tiina Urv

14

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25 August 2017

Charles Venditti

15

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25 August 2017

Gregory M Enns

16

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25 August 2017

publication date

22 September 2011

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Molecular Genetics and Metabolism

25 August 2017

published in

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25 August 2017

volume

105

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25 August 2017

issue

1

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25 August 2017

page(s)

5-9

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Defective propionate carboxylation in ketotic hyperglycinaemia

25 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.022

Localisation of enzymic defect in propionicacidaemia.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.022

Inherited propionyl-CoA carboxylase deficiency in “ketotic hyperglycinemia”

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.022

Crystal structure of the α6β6 holoenzyme of propionyl-coenzyme A carboxylase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.022

Three independent mutations in the same exon of the PCCB gene: differences between Caucasian and Japanese propionic acidaemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.022

The molecular landscape of propionic acidemia and methylmalonic aciduria in Latin America

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.022

Potential relationship between genotype and clinical outcome in propionic acidaemia patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.022

Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and possible clinical implications

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.022

Epilepsy in patients with propionic acidemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.022

Acute basal ganglia infarction in propionic acidemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.022

Stroke-like episodes in propionic acidemia caused by central focal metabolic decompensation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.022

Adult-onset chorea and dementia with propionic acidemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.022

Neurologic nonmetabolic presentation of propionic acidemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.022

Magnetic resonance spectroscopy (MRS) in five patients with treated propionic acidemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.022

Type I glutaric aciduria, part 2: a model of acute striatal necrosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.022

Acute extrapyramidal syndrome in methylmalonic acidemia: “Metabolic stroke” involving the globus pallidus

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.022

Neuropathology of propionic acidemia: a report of two patients with basal ganglia lesions

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.022

Optic nerve atrophy in propionic acidemia

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.022

Late onset optic neuropathy in methylmalonic and propionic acidemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.022

Cardiomyopathies in propionic aciduria are reversible after liver transplantation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.022

Cardiomyopathy in propionic acidaemia

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.022

Propionic acidemia: a rare cause of cardiomyopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.022

Prolonged QTc intervals and decreased left ventricular contractility in patients with propionic acidemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.022

Coincidence of long QT syndrome and propionic acidemia

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.022

Disorders of carnitine transport and the carnitine cycle

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.022

Clinical, pathological, and biochemical studies in a patient with propionic acidemia and fatal cardiomyopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.022

Secondary mitochondrial dysfunction in propionic aciduria: a pathogenic role for endogenous mitochondrial toxins.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.022

On the mechanism of action of the antifungal agent propionate.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.022

Pancreatic disease in children and adolescents

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.022

Recurrent acute pancreatitis associated with propionic acidemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.022

Hyperamylasemia/hyperlipasemia in a child with propionic acidemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.022

Acute pancreatitis in propionic acidaemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.022

Propionic acidemia: case report and review of neurologic sequelae

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.022

Anabolic effect of human growth hormone: management of inherited disorders of catabolic pathways

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.022

Parenteral nutrition in propionic and methylmalonic acidemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.022

Pancytopenia in propionic acidemia: hematologic evaluation and studies of hematopoiesis in vitro

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.022

Propionic acidaemia presenting with pancytopaenia in infancy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.022

Propionacidaemia and immunodeficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.022

Propionic acidemia with myelodysplasia and neutropenia in a Turkish child

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.022

Insulin-resistant hyperglycaemia complicating neonatal onset of methylmalonic and propionic acidaemias

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.022

Acrodermatitis enteropathica-like eruption in metabolic disorders: acrodermatitis dysmetabolica is proposed as a better term.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.022

Propionic acidemia manifesting with low isoleucine generalized exfoliative dermatosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.022

Acrodermatitis enteropathica-like cutaneous lesions in organic aciduria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.022

Propionic acidaemia: clinical, biochemical and therapeutic aspects. Experience in 30 patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.022

Propionic acidemia revisited: a workshop report

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.022

45-Year-old female with propionic acidemia, renal failure, and premature ovarian failure; late complications of propionic acidemia?

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.022

Tubulointerstitial nephritis in methylmalonic acidemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.022

Mitochondrial dysfunction in mut methylmalonic acidemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.022

Multiple OXPHOS deficiency in the liver, kidney, heart, and skeletal muscle of patients with methylmalonic aciduria and propionic aciduria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.022

Fatal heart failure associated with CoQ10 and multiple OXPHOS deficiency in a child with propionic acidemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.022

Profiling of oxidative stress in patients with inborn errors of metabolism

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.022

10.1016/J.YMGME.2011.09.022

7 January 2021

Identifiers

DOI

1 reference

25 August 2017

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