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Birth Defects Research Part A: Clinical and Molecular Teratology, ISSN 1542-0752, 11/2016, Volume 106, Issue 11, pp. 888 - 893
Journal Article
by Kwan, Antonia and Abraham, Roshini S and Currier, Robert and Brower, Amy and Andruszewski, Karen and Abbott, Jordan K and Baker, Mei and Ballow, Mark and Bartoshesky, Louis E and Bonilla, Francisco A and Brokopp, Charles and Brooks, Edward and Caggana, Michele and Celestin, Jocelyn and Church, Joseph A and Comeau, Anne Marie and Connelly, James A and Cowan, Morton J and Cunningham-Rundles, Charlotte and Dasu, Trivikram and Dave, Nina and De La Morena, Maria T and Duffner, Ulrich and Fong, Chin-To and Forbes, Lisa and Freedenberg, Debra and Gelfand, Erwin W and Hale, Jaime E and Hanson, I. Celine and Hay, Beverly N and Hu, Diana and Infante, Anthony and Johnson, Daisy and Kapoor, Neena and Kay, Denise M and Kohn, Donald B and Lee, Rachel and Lehman, Heather and Lin, Zhili and Lorey, Fred and Abdel-Mageed, Aly and Manning, Adrienne and McGhee, Sean and Moore, Theodore B and Naides, Stanley J and Notarangelo, Luigi D and Orange, Jordan S and Pai, Sung-Yun and Porteus, Matthew and Rodriguez, Ray and Romberg, Neil and Routes, John and Ruehle, Mary and Rubenstein, Arye and Saavedra-Matiz, Carlos A and Scott, Ginger and Scott, Patricia M and Secord, Elizabeth and Seroogy, Christine and Shearer, William T and Siegel, Subhadra and Silvers, Stacy K and Stiehm, E. Richard and Sugerman, Robert W and Sullivan, John L and Tanksley, Susan and Tierce, Millard L and Verbsky, James and Vogel, Beth and Walker, Rosalyn and Walkovich, Kelly and Walter, Jolan E and Wasserman, Richard L and Watson, Michael S and Weinberg, Geoffrey A and Weiner, Leonard B and Wood, Heather and Yates, Anne B and Puck, Jennifer M
JAMA, ISSN 0098-7484, 08/2014, Volume 312, Issue 7, pp. 729 - 738
Journal Article
by Bartoshesky, Louis E and Secord, Elizabeth and Sung-Yun Pai and McGhee, Sean and Notarangelo, Luigi D and Rubenstein, Arye and Chin-To Fong and Brooks, Edwar and Abdel-Mageed, Aly and Lorey, Fred and Naides, Stanley J and Infante, Anthony and Walkovich, Kelly and Seroogy, Christine and Lehman, Heather and Siegel, Subhadra and Connelly, James A and Comeau, Anne Marie and Puck, Jennifer M and Scott, Ginger and Caggana, Michele and Moore, Theodore B and Currier, Robert and Abraham, Roshini S and Wasserman, Richard L and Dasu, Trivikram and Hu, Diana and Weinberg, Geoffrey A and Romberg, Neil and Ballow, Mark and Vogel, Beth and Duffner, Ulrich and Celestin, Jocelyn and Church, Joseph A and Cowan, Morton J and Cunningham-Rundles, Charlotte and Tanksley, Susan and Weiner, Leonard B and Freedenberg, Debra and Saavedra-Matiz, Carlos A and Orange, Jordan S and Sugerman, Robert W and Kay, Denise M and Wood, Heather and Hale, Jaime E and Andruszewski, Karen and Routes, John and Kapoor, Neena and Johnson, Daisy and Brokopp, Charles and Ruehle, Mary and Rodriguez, Ray and Brower, Amy and Watson, Michael S and Walter, Jolan E and Verbsky, James and Silvers, Stacy K and Sullivan, John L and Shearer, William T and Yates, Anne B and Forbes, Lisa and Baker, Mei and Stiehm, E. Richard and Tierce, Millard L. IV and Bonilla, Francisco A and Scott, Patricia M and Hanson, I. Celine and Walker, Rosalyn and Lee, Rachel and Abbott, Jordan K and Porteus, Matthew and Kohn, Donald B and Hay, Beverly N and Dave, Nina and Kwan, Antonia and De La Morena, Maria T and Zhili Lin and Manning, Adrienne and Gelfand, Erwin W
JAMA, The Journal of the American Medical Association, ISSN 0098-7484, 08/2014, Volume 312, Issue 7, p. 729
The article presents a combined analysis of more than 3 million infants screened for severe combined immunodeficiency (SCID) and other conditions with T-cell... 
Infants (Newborn) | Care and treatment | Immunodeficiency | Research | Diagnosis | Health aspects | International aspects
Journal Article
Delaware medical journal, ISSN 0011-7781, 2005, Volume 77, Issue 6, pp. 231 - 232
Journal Article
Delaware medical journal, ISSN 0011-7781, 2003, Volume 75, Issue 5, pp. 181 - 189
Newborn screening for metabolic, hematologic, and endocrinologic disorders is a well-established public health function. Recent technological advances have... 
Humans | Neonatal Screening - trends | Endocrine System Diseases - diagnosis | Neonatal Screening - methods | Metabolic Diseases - diagnosis | Delaware | Neonatal Screening - legislation & jurisprudence | Hematologic Diseases - diagnosis | Infant, Newborn
Journal Article
Journal Article
Pediatrics, ISSN 0031-4005, 07/1999, Volume 104, Issue 1, p. 129
Journal Article
Neurosurgery, ISSN 0148-396X, 1988, Volume 22, Issue 4, pp. 739 - 744
Segmental spinal dysgenesis is characterized by focal agenesis or dysgenesis of the lumbar or thoracolumbar spine, with focal abnormality of the underlying... 
Spinal Cord - abnormalities | Spine - abnormalities | Spine - diagnostic imaging | Humans | Spinal Cord - diagnostic imaging | Female | Male | Tomography, X-Ray Computed | Spinal Nerve Roots - abnormalities | Spinal Nerve Roots - diagnostic imaging | Myelography | Infant, Newborn
Journal Article
Journal of Neurosurgery, ISSN 0022-3085, 1986, Volume 65, Issue 6, pp. 779 - 783
Four children with previously repaired myelomeningoceles presented toward the end of the first decade or early in the second decade of life with deteriorating... 
Meningomyelocele - surgery | Spinal Cord Diseases - physiopathology | Humans | Male | Spinal Cord Neoplasms - etiology | Spinal Cord Neoplasms - physiopathology | Meningomyelocele - physiopathology | Dermoid Cyst - physiopathology | Adolescent | Female | Meningomyelocele - complications | Dermoid Cyst - etiology | Child
Journal Article
The Journal of Pediatrics, ISSN 0022-3476, 1986, Volume 109, Issue 2, pp. 396 - 396
Journal Article
American Journal of Diseases of Children, ISSN 0002-922X, 04/1985, Volume 139, Issue 4, pp. 400 - 402
• The charts of 111 children with meningomyelocele were reviewed. Ninety-eight had shunted hydrocephalus. Twenty-five of 111 children (24 of 98 children with... 
Developmental Disabilities - etiology | Humans | Seizures - drug therapy | Anticonvulsants - therapeutic use | Child, Preschool | Infant | Male | Hydrocephalus - complications | Brain - abnormalities | Bacterial Infections - complications | Cerebrospinal Fluid Shunts | Seizures - etiology | Female | Meningomyelocele - complications | Child | Infant, Newborn
Journal Article
American Journal of Diseases of Children, ISSN 0002-922X, 02/1985, Volume 139, Issue 2, pp. 159 - 159
As is true of any collection of reviews with multiple authors (in this case, 29 authors of 20 reviews), the quality varies. In general, however, this is a... 
Journal Article
American Journal of Diseases of Children, ISSN 0002-922X, 08/1981, Volume 135, Issue 8, pp. 703 - 708
• Isolated deficiency of the lysosomal hydrolase acid neuraminidase results in multisystem storage of sialic acid-rich oligosaccharides. Wide phenotypic... 
Fibroblasts - enzymology | Mucolipidoses - enzymology | Phenotype | Neuraminidase - deficiency | Humans | Child, Preschool | Female | Infant | Mucolipidoses - genetics | Child | Infant, Newborn
Journal Article
Radiology, ISSN 0033-8419, 1979, Volume 133, Issue 2, pp. 375 - 377
Journal Article
Clinical Pediatrics, ISSN 0009-9228, 08/1978, Volume 17, Issue 8, pp. 625 - 638
Journal Article
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