Carnitine Uptake Defect (Primary Carnitine Deficiency): Risk in Genotype-Phenotype Correlation

Carnitine Uptake

Response to Chen et al.: Carnitine Uptake Defect (Primary Carnitine Deficiency): Risk in Genotype-Phenotype Correlation

Human Mutation ◽

10.1002/humu.22285 ◽

2013 ◽

Vol 34 (4) ◽

pp. 656-656 ◽

Cited By ~ 3

Author(s):

Marzia Pasquali ◽

Nicola Longo

Keyword(s):

Carnitine Deficiency ◽

Phenotype Correlation ◽

Carnitine Uptake

Genotype-phenotype correlation in primary carnitine deficiency

Human Mutation ◽

10.1002/humu.21607 ◽

2011 ◽

Vol 33 (1) ◽

pp. 118-123 ◽

Cited By ~ 34

Author(s):

Emily C. Rose ◽

Cristina Amat di San Filippo ◽

Uzochi C. Ndukwe Erlingsson ◽

Orly Ardon ◽

Marzia Pasquali ◽

...

Keyword(s):

Carnitine Deficiency ◽

Phenotype Correlation ◽

Primary Carnitine Deficiency

Functional analysis of mutations in the OCTN2 transporter causing primary carnitine deficiency: Lack of genotype-phenotype correlation

Human Mutation ◽

10.1002/1098-1004(200011)16:5<401::aid-humu4>3.0.co;2-j ◽

2000 ◽

Vol 16 (5) ◽

pp. 401-407 ◽

Cited By ~ 46

Author(s):

Yuhuan Wang ◽

Franco Taroni ◽

Barbara Garavaglia ◽

Nicola Longo

Keyword(s):

Functional Analysis ◽

Carnitine Deficiency ◽

Phenotype Correlation ◽

Primary Carnitine Deficiency

Exclusive cardiac dysfunction in familial primary carnitine deficiency cases: a genotype-phenotype correlation

Clinical Genetics ◽

10.1111/j.1399-0004.2007.00814.x ◽

2007 ◽

Vol 72 (1) ◽

pp. 59-62 ◽

Cited By ~ 16

Author(s):

AA Yamak ◽

F Bitar ◽

P Karam ◽

G Nemer

Keyword(s):

Cardiac Dysfunction ◽

Carnitine Deficiency ◽

Phenotype Correlation ◽

Deficiency Cases

Mutations of OCTN2, an Organic Cation/Carnitine Transporter, Lead to Deficient Cellular Carnitine Uptake in Primary Carnitine Deficiency

Human Molecular Genetics ◽

10.1093/hmg/8.4.655 ◽

1999 ◽

Vol 8 (4) ◽

pp. 655-660 ◽

Cited By ~ 106

Author(s):

N. L. S. Tang ◽

V. Ganapathy ◽

X. Wu ◽

J. Hui ◽

P. Seth ◽

...

Keyword(s):

Organic Cation ◽

Carnitine Deficiency ◽

Carnitine Transporter ◽

Carnitine Uptake

A familial case of osteogenesis imperfecta: study of genotype-phenotype correlation

Bone Abstracts ◽

10.1530/boneabs.2.p160 ◽

2013 ◽

Author(s):

Ponti Emanuela ◽

Mihalich Alessandra ◽

Broggi Francesca ◽

Maria Di Blasio Anna ◽

Luisa Bianchi Maria

Keyword(s):

Osteogenesis Imperfecta ◽

Familial Case ◽

Phenotype Correlation ◽

Genotype Phenotype Correlation

A rare case of centronuclear myopathy with DNM2 mutation: Genotype-phenotype correlation and review of articles

10.26226/morressier.578f37fed462b8028d88ffc4 ◽

2016 ◽

Author(s):

Amir Ghorbani

Keyword(s):

Rare Case ◽

Centronuclear Myopathy ◽

Phenotype Correlation ◽

Genotype Phenotype Correlation

Clinical implications of genotype-phenotype correlation in multiple endocrine neoplasia type 2

10.31488/bjcr.1000106 ◽

2018 ◽

Vol 1 (2) ◽

Keyword(s):

Multiple Endocrine Neoplasia ◽

Multiple Endocrine Neoplasia Type ◽

Clinical Implications ◽

Phenotype Correlation ◽

Endocrine Neoplasia ◽

Endocrine Neoplasia Type

Faculty Opinions recommendation of Genotype phenotype correlation of 30 patients with Smith-Magenis syndrome (SMS) using comparative genome hybridisation array: cleft palate in SMS is associated with larger deletions.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.1098522.554619 ◽

2008 ◽

Author(s):

Sue Malcolm

Keyword(s):

Cleft Palate ◽

Phenotype Correlation ◽

Comparative Genome ◽

Comparative Genome Hybridisation

Genotype–phenotype correlation in GNB1 ‐related neurodevelopmental disorder: Potential association of p. Leu95Pro with cleft palate

American Journal of Medical Genetics Part A ◽

10.1002/ajmg.a.62080 ◽

2021 ◽

Author(s):

Lisa A. Lansdon ◽

Carol J. Saunders

Keyword(s):

Cleft Palate ◽

Neurodevelopmental Disorder ◽

Phenotype Correlation ◽

Potential Association ◽

Disorder Potential