JIMD Reports - JIMD Reports, Volume 33
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16
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Published By Springer Berlin Heidelberg

9783662550113, 9783662550120
Latest Documents Most Cited Documents Contributed Authors Related Sources Related Keywords

scholarly journals Erratum: Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD)

2017 ◽  
pp. 111-111
Author(s):  
Shanti Balasubramaniam ◽  
B. Lewis ◽  
D. M. Mock ◽  
H. M. Said ◽  
M. Tarailo-Graovac ◽  
...  
Keyword(s):  
Multiple Carboxylase Deficiency ◽  
Biochemical Features

scholarly journals Erratum: Missed Newborn Screening Case of Carnitine Palmitoyltransferase-II Deficiency

2017 ◽  
pp. 109-110
Author(s):  
Andrew C. Edmondson ◽  
Jennifer Salant ◽  
Lynne A. Ierardi-Curto ◽  
Can Ficicioglu
Keyword(s):  
Newborn Screening ◽  
Carnitine Palmitoyltransferase ◽  
Carnitine Palmitoyltransferase Ii

scholarly journals The Challenges of a Successful Pregnancy in a Patient with Adult Refsum’s Disease due to Phytanoyl-CoA Hydroxylase Deficiency

2016 ◽  
pp. 49-53 ◽  
Author(s):  
Karolina M. Stepien ◽  
Anthony S. Wierzbicki ◽  
Bwee T. Poll-The ◽  
Hans R. Waterham ◽  
Christian J. Hendriksz
Keyword(s):  
Hydroxylase Deficiency ◽  
Successful Pregnancy ◽  
Refsum's Disease

scholarly journals Swallow Prognosis and Follow-Up Protocol in Infantile Onset Pompe Disease

2016 ◽  
pp. 11-17 ◽  
Author(s):  
Gyani Swift ◽  
Maureen Cleary ◽  
Stephanie Grunewald ◽  
Sonia Lozano ◽  
Martina Ryan ◽  
...  
Keyword(s):  
Pompe Disease

scholarly journals Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD)

2016 ◽  
pp. 99-107 ◽  
Author(s):  
Shanti Balasubramaniam ◽  
B. Lewis ◽  
D. M. Mock ◽  
H. M. Said ◽  
M. Tarailo-Graovac ◽  
...  
Keyword(s):  
Multiple Carboxylase Deficiency ◽  
Biochemical Features

scholarly journals Gastrointestinal Health in Classic Galactosemia

2016 ◽  
pp. 27-32 ◽  
Author(s):  
Kelly A. Shaw ◽  
Jennifer G. Mulle ◽  
Michael P. Epstein ◽  
Judith L. Fridovich-Keil
Keyword(s):  
Classic Galactosemia ◽  
Gastrointestinal Health

scholarly journals Lethal Neonatal LTBL Associated with Biallelic EARS2 Variants: Case Report and Review of the Reported Neuroradiological Features

2016 ◽  
pp. 61-68 ◽  
Author(s):  
Renata Oliveira ◽  
Ewen W. Sommerville ◽  
Kyle Thompson ◽  
Joana Nunes ◽  
Angela Pyle ◽  
...  
Keyword(s):  
Case Report

scholarly journals Missed Newborn Screening Case of Carnitine Palmitoyltransferase-II Deficiency

2016 ◽  
pp. 93-97 ◽  
Author(s):  
Andrew C. Edmondson ◽  
Jennifer Salant ◽  
Lynne A. Ierardi-Curto ◽  
Can Ficicioglu
Keyword(s):  
Newborn Screening ◽  
Carnitine Palmitoyltransferase ◽  
Carnitine Palmitoyltransferase Ii

scholarly journals Management of Life-Threatening Tracheal Stenosis and Tracheomalacia in Patients with Mucopolysaccharidoses

2016 ◽  
pp. 33-39 ◽  
Author(s):  
Christoph Kampmann ◽  
Christiane M. Wiethoff ◽  
Ralf G. Huth ◽  
Gundula Staatz ◽  
Eugen Mengel ◽  
...  
Keyword(s):  
Tracheal Stenosis ◽  
Life Threatening
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