A case of D-bifunctional protein deficiency: clinical, biochemical and molecular investigations

Paolo Ghirri; Marco Vuerich; Sacha Ferdinandusse; Hans R. Waterham; Andrea Guzzetta; Maria C. Bianchi; Antonio Boldrini; Ronald J. A. Wanders

doi:https://doi.org/10.1111/j.1442-200X.2010.03255.x

A case of D-bifunctional protein deficiency: clinical, biochemical and molecular investigations

Paolo Ghirri, Marco Vuerich, Sacha Ferdinandusse, Hans R. Waterham, Andrea Guzzetta, Maria C. Bianchi, Antonio Boldrini, Ronald J. A. Wanders

Amsterdam Gastroenterology Endocrinology Metabolism (AMC)

Research output: Contribution to journal › Article › Academic › peer-review

5 Citations (Scopus)

Original language	English
Pages (from-to)	583-587
Journal	Pediatrics international
Volume	53
Issue number	4
DOIs	https://doi.org/10.1111/j.1442-200X.2010.03255.x
Publication status	Published - 2011

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https://doi.org/10.1111/j.1442-200X.2010.03255.x

Cite this

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title = "A case of D-bifunctional protein deficiency: clinical, biochemical and molecular investigations",

author = "Paolo Ghirri and Marco Vuerich and Sacha Ferdinandusse and Waterham, {Hans R.} and Andrea Guzzetta and Bianchi, {Maria C.} and Antonio Boldrini and Wanders, {Ronald J. A.}",

year = "2011",

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language = "English",

volume = "53",

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journal = "Pediatrics international",

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T1 - A case of D-bifunctional protein deficiency: clinical, biochemical and molecular investigations

AU - Ghirri, Paolo

AU - Vuerich, Marco

AU - Ferdinandusse, Sacha

AU - Waterham, Hans R.

AU - Guzzetta, Andrea

AU - Bianchi, Maria C.

AU - Boldrini, Antonio

AU - Wanders, Ronald J. A.

PY - 2011

Y1 - 2011

U2 - https://doi.org/10.1111/j.1442-200X.2010.03255.x

DO - https://doi.org/10.1111/j.1442-200X.2010.03255.x

M3 - Article

C2 - 21851493

SN - 1328-8067

VL - 53

SP - 583

EP - 587

JO - Pediatrics international

JF - Pediatrics international

IS - 4

ER -