Abstract |
|
Authors | Ronald D Cohn, Erik Eklund, Amanda L Bergner, James F Casella, S Lee Woods, Janyne Althaus, Karin J Blakemore, Harold E Fox, Julie E Hoover-Fong, Ada Hamosh, Nancy E Braverman, Hudson H Freeze, Simeon A Boyadjiev |
Journal | Pediatrics
(Pediatrics)
Vol. 118
Issue 2
Pg. e514-21
(Aug 2006)
ISSN: 1098-4275 [Electronic] United States |
PMID | 16816004
(Publication Type: Case Reports, Journal Article, Research Support, N.I.H., Extramural)
|
Chemical References |
- Glycoproteins
- Transferrin
- alpha-2-Antiplasmin
|
Topics |
- Apnea
(etiology)
- Brain
(pathology)
- Carbohydrate Metabolism, Inborn Errors
(blood, complications, diagnosis)
- Cerebral Hemorrhage
(congenital, etiology)
- Cholelithiasis
(etiology)
- Clubfoot
- Contracture
(congenital)
- Fatal Outcome
- Glycoproteins
(metabolism)
- Glycosylation
- Hematoma, Subdural
(etiology)
- Humans
- Infant, Newborn
- Magnetic Resonance Imaging
- Male
- Muscle Hypertonia
(etiology)
- Protein Processing, Post-Translational
(genetics)
- Respiratory Insufficiency
(etiology)
- Spectrometry, Mass, Electrospray Ionization
- Transferrin
(chemistry)
- alpha-2-Antiplasmin
(deficiency)
|