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JIMD reports

Showing results (11-20 of 1,268) with videos related to

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JIMD Reports|July 30, 2015
Friedreich Ataxia in Classical GalactosaemiaSiobhán Neville, Siobhan O'Sullivan, Bronagh Sweeney, et al.
JIMD Reports|July 3, 2013
Propionic acidemia and optic neuropathy: a report of two casesCarolina Arias, Erna Raimann, Pilar Peredo, et al.
JIMD Reports|July 4, 2013
Transient massive trimethylaminuria associated with food protein-induced enterocolitis syndromeNatalie B Miller, Avraham Beigelman, Elizabeth Utterson, et al.
JIMD Reports|July 6, 2014
Fibrolamellar hepatocellular carcinoma mimicking ornithine transcarbamylase deficiencyRaashda A Sulaiman, Tarekegn Geberhiwot
JIMD Reports|July 7, 2014
Reversal of respiratory failure in both neonatal and late onset isolated remethylation disordersA Broomfield, L Abulhoul, W Pitt, et al.
JIMD Reports|July 9, 2014
Widening Phenotypic Spectrum of AADC Deficiency, a Disorder of Dopamine and Serotonin SynthesisGuy Helman, Maria Belen Pappa, Phillip L Pearl
JIMD Reports|January 4, 2016
Atypical Clinical Presentations of TAZ Mutations: An Underdiagnosed Cause of Growth Retardation?Charlotte Thiels, Martin Fleger, Martina Huemer, et al.
JIMD Reports|June 2, 2016
Four Years of Diagnostic Challenges with Tetrahydrobiopterin Deficiencies in Iranian PatientsShohreh Khatami, Soghra Rouhi Dehnabeh, Sirous Zeinali, et al.
JIMD Reports|June 4, 2016
Identification of Cryptic Novel α-Galactosidase A Gene Mutations: Abnormal mRNA Splicing and Large DeletionsTakashi Higuchi, Masahisa Kobayashi, Jin Ogata, et al.
JIMD Reports|August 10, 2016
Classical Galactosaemia and CDG, the N-Glycosylation Interface. A ReviewAshwini Maratha, Hugh-Owen Colhoun, Ina Knerr, et al.
Pageof 127

Showing results (11-20 of 1,268) with videos related to

Sort By:
Pageof 127
JIMD Reports|July 30, 2015
Friedreich Ataxia in Classical GalactosaemiaSiobhán Neville, Siobhan O'Sullivan, Bronagh Sweeney, et al.
JIMD Reports|July 3, 2013
Propionic acidemia and optic neuropathy: a report of two casesCarolina Arias, Erna Raimann, Pilar Peredo, et al.
JIMD Reports|July 4, 2013
Transient massive trimethylaminuria associated with food protein-induced enterocolitis syndromeNatalie B Miller, Avraham Beigelman, Elizabeth Utterson, et al.
JIMD Reports|July 6, 2014
Fibrolamellar hepatocellular carcinoma mimicking ornithine transcarbamylase deficiencyRaashda A Sulaiman, Tarekegn Geberhiwot
JIMD Reports|July 7, 2014
Reversal of respiratory failure in both neonatal and late onset isolated remethylation disordersA Broomfield, L Abulhoul, W Pitt, et al.
JIMD Reports|July 9, 2014
Widening Phenotypic Spectrum of AADC Deficiency, a Disorder of Dopamine and Serotonin SynthesisGuy Helman, Maria Belen Pappa, Phillip L Pearl
JIMD Reports|January 4, 2016
Atypical Clinical Presentations of TAZ Mutations: An Underdiagnosed Cause of Growth Retardation?Charlotte Thiels, Martin Fleger, Martina Huemer, et al.
JIMD Reports|June 2, 2016
Four Years of Diagnostic Challenges with Tetrahydrobiopterin Deficiencies in Iranian PatientsShohreh Khatami, Soghra Rouhi Dehnabeh, Sirous Zeinali, et al.
JIMD Reports|June 4, 2016
Identification of Cryptic Novel α-Galactosidase A Gene Mutations: Abnormal mRNA Splicing and Large DeletionsTakashi Higuchi, Masahisa Kobayashi, Jin Ogata, et al.
JIMD Reports|August 10, 2016
Classical Galactosaemia and CDG, the N-Glycosylation Interface. A ReviewAshwini Maratha, Hugh-Owen Colhoun, Ina Knerr, et al.
Pageof 127