(Q51624513)

8 April 2018

title

Long-term needs of adult patients with organic acidaemias: outcome and prognostic factors. (English)

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8 April 2018

author name string

E Martín-Hernández

1

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8 April 2018

P J Lee

2

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8 April 2018

A Micciche

3

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8 April 2018

S Grunewald

4

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8 April 2018

R H Lachmann

5

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8 April 2018

publication date

23 July 2009

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8 April 2018

Journal of Inherited Metabolic Disease

published in

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8 April 2018

volume

32

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8 April 2018

issue

4

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8 April 2018

page(s)

523-533

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8 April 2018

https://scigraph.springernature.com/pub.10.1007/s10545-009-1191-12

exact match

0 references

cites work

The Natural History of the Inherited Methylmalonic Acidemias

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Crossref

https://api.crossref.org/works/10.1007%2FS10545-009-1191-12

The impact of screening for propionic and methylmalonic acidaemia

21 January 2018

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Propionic acidemia revisited: a workshop report

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Liver transplantation for methylmalonic acidaemia

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Clinical outcome of long-term management of patients with vitamin B12-unresponsive methylmalonic acidemia

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Long-term follow-up of 77 patients with isolated methylmalonic acidaemia

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12 December 2020

Potential relationship between genotype and clinical outcome in propionic acidaemia patients

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12 December 2020

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

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Propionic acidaemia with basal ganglia stroke: treatment of acute extrapyramidal symptoms with L-DOPA.

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Neurologic nonmetabolic presentation of propionic acidemia

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The adolescent with an inborn error of metabolism: medical issues and transition to adulthood

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Maternal isovaleric acidemia

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Long term outcome of organic acidurias: survey of 105 French cases (1967-1983)

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12 December 2020

Successful pregnancy in severe methylmalonic acidaemia

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12 December 2020

Cardiomyopathy in propionic acidaemia

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12 December 2020

Neurological outcome of methylmalonic acidaemia

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12 December 2020

Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group.

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12 December 2020

Neurologic outcome of propionic acidemia

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12 December 2020

Management of methylmalonic acidaemia by combined liver-kidney transplantation

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12 December 2020

Inborn errors of metabolism and pregnancy

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Low protein intake: the impact on calcium and bone homeostasis in humans

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12 December 2020

Pregnancy issues in inherited metabolic disorders

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12 December 2020

The management and long term outcome of organic acidaemias

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12 December 2020

Growing older: the adult metabolic clinic

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

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Methylmalonic and propionic acidaemias: management and outcome

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Needs assessment and review of services for people with inherited metabolic disease in the United Kingdom

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Renal transplantation in a patient with methylmalonic acidaemia

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12 December 2020

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

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Body composition in young adults with inborn errors of protein metabolism--a pilot study.

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Successful pregnancy in a woman with mut- methylmalonic acidaemia.

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Case Report: Second case of a successful pregnancy in maternal isovaleric acidaemia

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Case reports of successful pregnancy in women with maple syrup urine disease and propionic acidemia

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Methylmalonic and propionic acidurias: management without or with a few supplements of specific amino acid mixture.

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Optic nerve atrophy in propionic acidemia

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12 December 2020

Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB).

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12 December 2020

'Classical' organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: long-term outcome and effects of expanded newborn screening using tandem mass spectrometry.

1 reference

12 December 2020

10.1007/S10545-009-1191-12

Identifiers

DOI

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8 April 2018

PubMed ID

19629744

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8 April 2018