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Clinical Case Reports, ISSN 2050-0904, 03/2018, Volume 6, Issue 3, pp. 465 - 468
Key Clinical Message Later‐onset congenital central hypoventilation syndrome (LO‐CCHS) does not present only breathing problems but can be present as episodic... 
Congenital central hypoventilation syndrome | milder later‐onset | episodic of respiratory failure | PHOX2B
Journal Article
by Rojnueangnit, Kitiwan and Xie, Jing and Gomes, Alicia and Sharp, Angela and Callens, Tom and Chen, Yunjia and Liu, Ying and Cochran, Meagan and Abbott, Mary‐Alice and Atkin, Joan and Babovic‐Vuksanovic, Dusica and Barnett, Christopher P and Crenshaw, Melissa and Bartholomew, Dennis W and Basel, Lina and Bellus, Gary and Ben‐Shachar, Shay and Bialer, Martin G and Bick, David and Blumberg, Bruce and Cortes, Fanny and David, Karen L and Destree, Anne and Duat‐Rodriguez, Anna and Earl, Dawn and Escobar, Luis and Eswara, Marthanda and Ezquieta, Begona and Frayling, Ian M and Frydman, Moshe and Gardner, Kathy and Gripp, Karen W and Hernández‐Chico, Concepcion and Heyrman, Kurt and Ibrahim, Jennifer and Janssens, Sandra and Keena, Beth A and Llano‐Rivas, Isabel and Leppig, Kathy and McDonald, Marie and Misra, Vinod K and Mulbury, Jennifer and Narayanan, Vinodh and Orenstein, Naama and Galvin‐Parton, Patricia and Pedro, Helio and Pivnick, Eniko K and Powell, Cynthia M and Randolph, Linda and Raskin, Salmo and Rosell, Jordi and Rubin, Karol and Seashore, Margretta and Schaaf, Christian P and Scheuerle, Angela and Schultz, Meredith and Schorry, Elizabeth and Schnur, Rhonda and Siqveland, Elizabeth and Tkachuk, Amanda and Tonsgard, James and Upadhyaya, Meena and Verma, Ishwar C and Wallace, Stephanie and Williams, Charles and Zackai, Elaine and Zonana, Jonathan and Lazaro, Conxi and Claes, Kathleen and Korf, Bruce and Martin, Yolanda and Legius, Eric and Messiaen, Ludwine
Human Mutation, ISSN 1059-7794, 11/2015, Volume 36, Issue 11, pp. 1052 - 1063
Journal Article
BMC MEDICAL GENETICS, ISSN 1471-2350, 09/2019, Volume 20, Issue 1, pp. 156 - 11
Background Pompe disease is a lysosomal storage disorder caused by the deficiency of acid alpha-glucosidase (EC. 3.2.1.20) due to mutations in human GAA gene.... 
Pompe disease | Lysosomal strorage disorder | GAA | FREQUENT MUTATION | IDENTIFICATION | DELETION | Glycogen storage disease type II | TRANSPORT | EXON-18 | GENETICS & HEREDITY | ACID ALPHA-GLUCOSIDASE | GAA GENE | Acid alpha glucosidase | Cell culture | Enzymes | Media (culture) | Review boards | Cardiomyopathy | Exons | GAA protein | Proteins | Enzymatic activity | Mutagenesis | Alleles | Mutation | Protein structure
Journal Article
Cleft Palate-Craniofacial Journal, ISSN 1055-6656, 11/2015, Volume 52, Issue 6, pp. 724 - 724
Cleft lip and/or cleft palate (CL/P) occurs either as an isolated anomaly or as one manifestation of genetic syndromes. Chromosomal abnormalities from... 
Journal Article
Journal of the Medical Association of Thailand = Chotmaihet thangphaet, ISSN 0125-2208, 2012, Volume 95, pp. S190 - 194
Osteogenesis imperfecta (OI) is an inherited disorder of type I collagen synthesis with an estimate incidence of I in 100,000 live births. Among all types, OI... 
Diagnosis, Differential | Lung - pathology | Osteogenesis Imperfecta - diagnosis | Skull - pathology | Humans | Fatal Outcome | Male | Osteogenesis Imperfecta - pathology | Thailand | Cerebral Hemorrhage - pathology | Infant, Newborn
Journal Article
Human Mutation, ISSN 1059-7794, 11/2015, Volume 36, Issue 11, pp. 1052 - 1063
Journal Article
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