Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia

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Location: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 1750-1172

Extent: Online-Ressource

Language: Englisch

Notes: online resource.

Bibliographic citation: Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia ; volume:9 ; number:1 ; day:2 ; month:9 ; year:2014 ; pages:1-36 ; date:12.2014
Orphanet journal of rare diseases ; 9, Heft 1 (2.9.2014), 1-36, 12.2014

Creator: Baumgartner, Matthias R.

Contributor: Hörster, Friederike
Dionisi-Vici, Carlo
Haliloglu, Goknur
Karall, Daniela
Chapman, Kimberly A.
Huemer, Martina
Hochuli, Michel
Assoun, Murielle
Ballhausen, Diana
Burlina, Alberto
Fowler, Brian
Grünert, Sarah C.
Grünewald, Stephanie
Honzik, Tomas
Merinero, Begoña
Pérez-Cerdá, Celia
Scholl-Bürgi, Sabine
Skovby, Flemming
Wijburg, Frits
Macdonald, Anita
Martinelli, Diego
Sass, Jörn Oliver
Valayannopoulos, Vassili
Chakrapani, Anupam
SpringerLink (Online service)

DOI: 10.1186/s13023-014-0130-8

URN: urn:nbn:de:1111-2016050125571

Rights: Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 14.08.2025, 10:55 AM CEST

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Associated

Baumgartner, Matthias R.
Hörster, Friederike
Dionisi-Vici, Carlo
Haliloglu, Goknur
Karall, Daniela
Chapman, Kimberly A.
Huemer, Martina
Hochuli, Michel
Assoun, Murielle
Ballhausen, Diana
Burlina, Alberto
Fowler, Brian
Grünert, Sarah C.
Grünewald, Stephanie
Honzik, Tomas
Merinero, Begoña
Pérez-Cerdá, Celia
Scholl-Bürgi, Sabine
Skovby, Flemming
Wijburg, Frits
Macdonald, Anita
Martinelli, Diego
Sass, Jörn Oliver
Valayannopoulos, Vassili
Chakrapani, Anupam
SpringerLink (Online service)

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Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia

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Other Objects (12)

Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia

Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision

Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: first revision

Biochemical and genetic approaches to the prenatal diagnosis of propionic acidemia in 78 pregnancies

Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines

Evaluation of the draft guidelines proposed by EMA and FDA for the clinical diagnosis of acute uncomplicated cystitis in women

Antenatal nephromegaly and propionic acidemia: a case report

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Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia

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Biochemical and genetic approaches to the prenatal diagnosis of propionic acidemia in 78 pregnancies

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Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: first revision

Biochemical and genetic approaches to the prenatal diagnosis of propionic acidemia in 78 pregnancies

Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines

Evaluation of the draft guidelines proposed by EMA and FDA for the clinical diagnosis of acute uncomplicated cystitis in women

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