Affiliation: Louisiana State University Health Sciences Center
- Living related liver transplant in a patient with argininosuccinic aciduria and cirrhosis: metabolic follow-upMichael Marble
Department of Pediatrics, Louisiana State University Health Sciences Center, New Orleans, LA, USA
J Pediatr Gastroenterol Nutr 46:453-6. 2008
- Neonatal vitamin B12 deficiency secondary to maternal subclinical pernicious anemia: identification by expanded newborn screeningMichael Marble
Department of Pediatrics, Division of Clinical Genetics, Louisiana State University Health Sciences Center, Children s Hospital of New Orleans, New Orleans, LA, USA
J Pediatr 152:731-3. 2008..The mother was also vitamin B(12)-deficient. This case illustrates the utility of expanded newborn screening for detection of vitamin B(12) deficiency, allowing prompt treatment and prevention of potential sequelae...
- Phenotypic features of a boy with trisomy of 16q22-->qter due to paternal Y; 16 translocationFern Tsien
Louisiana State University Health Sciences Center, Department of Genetics, New Orleans, LA 70112, USA
Clin Dysmorphol 14:177-81. 2005..The patient was noted to have craniofacial anomalies and developmental delay, but no other major malformations. The father, a balanced Y;16 translocation carrier, has apparently normal fertility...
- Pelizaeus-Merzbacher syndrome: neurocognitive function in a family with carrier manifestationsMichael Marble
Division of Clinical Genetics, Department of Pediatrics, Children s Hospital of New Orleans, Louisiana State University Health Sciences Center, 200 Henry Clay Avenue, New Orleans, LA 70118, USA
Am J Med Genet A 143:1442-7. 2007..The presence of neurological and cognitive deterioration in the three carriers deviates from the usual expectation that carrier expression only occurs in families when males are mildly affected...
- Positive newborn screen in a normal infant of a mother with asymptomatic very long-chain Acyl-CoA dehydrogenase deficiencyRobin R McGoey
Department of Pathology, Louisiana State University Health Sciences Center, New Orleans, LA, USA
J Pediatr 158:1031-2. 2011..However, his symptom-free mother was subsequently diagnosed with VLCADD. This documents maternal VLCADD causing a positive newborn screening result in an offspring...
- Scalp defects, polythelia, microcephaly, and developmental delay: a new syndrome with apparent autosomal dominant inheritanceMichael Marble
Human Genetics Program, Hayward Genetics Center and Department of Pediatrics, Tulane University School of Medicine, New Orleans, Louisiana, USA
Am J Med Genet 108:327-32. 2002..A review of the literature revealed no previous report of this combination of anomalies. We conclude that these patients have a new autosomal dominant syndrome...
- Scoliosis in velo-cardio-facial syndromeEva Morava
Children s Hospital, New Orleans, Louisiana 70118, USA
J Pediatr Orthop 22:780-3. 2002..2 deletion, and they should be monitored for this problem. In addition, 22q11.2 deletion should be among the diagnostic considerations in patients with unexplained scoliosis and developmental delay...
- Mutations in LTBP4 cause a syndrome of impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal developmentZsolt Urban
Department of Pediatrics, Washington University School of Medicine, St Louis, MO 63110, USA
Am J Hum Genet 85:593-605. 2009..Our results show that coupling of TGF-beta signaling and ECM assembly is essential for proper development and is achieved in multiple human organ systems by multifunctional proteins such as LTBP4...