Results 211 to 220 of about 9,346,548 (387)

Diffuse esophageal leiomyomatosis with perirectal involvement mimicking Hirschsprung disease [PDF]

, 2001
Philippe Guillem, F. Delcambre, L Cohen-Solal, Jean–Pierre Triboulet, Corinne Antignac, Laurence Heidet, P Quandallé   +6 more
openalex   +1 more source

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods, N. Holmes, A. S. Denommé‐Pichon, M. Vincent, N. Belova, C. Gooch, B. Isidor, C. W. Ockeloen, E. Pavlidou, H. Stewart, V. J. M. Verhoeven, A. Ververi, A. Dixit, A. Sarkar, R. Legg, E. Reid, M. Balasubramanian   +16 more
wiley   +1 more source

Endoscopic Surgery of the Broncho-esophageal Disease. Treatment of Tracheobronchial Obstruction with Rigid Bronchoscopy.

, 1996
Keigo Takagi, Gentaro Tsumatori, Yoshiro Ooshika, Mitsuharu Sato, Hiroyuki Deguchi, Teruhiro Aoki, Masazumi Watanabe, Yuichi Ozeki, Susumu Tanaka   +8 more
openalex   +2 more sources

Aortoesophageal Fistula Associated with Tuberculous Mediastinitis, Mimicking Esophageal Dieulafoy's Disease [PDF]

, 2002
Ok‐Jae Lee, Sung Ho Kim
openalex   +1 more source

Early Enzyme Replacement Therapy Does Not Prevent the Protein Losing Enteropathy Syndrome in Neurovisceral Gaucher Disease

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gaucher disease (GD) is a rare lysosomal storage disorder characterized by multisystemic involvement. With the advent of enzyme replacement therapy (ERT), patient survival has improved, revealing new long‐term complications. We report a case of a 4‐year‐old male with severe neurovisceral GD who developed protein‐losing enteropathy (PLE ...
Vincenza Gragnaniello, Mara Cananzi, Annachiara Cavaliere, Christian Loro, Chiara Cazzorla, Daniela Gueraldi, Andrea Puma, Alberto B. Burlina   +7 more
wiley   +1 more source

The role of hypervigilance in chronic esophageal diseases: a scoping review. [PDF]

Transl Gastroenterol Hepatol
Guadagnoli L, Yadlapati R.
europepmc   +1 more source

Endoscopic Surgery of the Broncho-esophageal Diseases. Photodynamic Therapy for Early Stage Central Type Lung Cancer.

, 1996
Chimori Konaka, Tetsuya Okunaka, Kinya Furukawa, Harumasa Sakai, Harubumi Kato   +4 more
openalex   +2 more sources

Preoperative esophageal body motility does not influence the outcome of laparoscopic Nissen fundoplication for gastroesophageal reflux disease [PDF]

, 2002
M. Booth, J. Stratford, T C B Dehn
openalex   +1 more source

The Role of SLC39A8.p.(Ala391Thr) in Schizophrenia Symptom Severity and Cognitive Ability: Cross‐Sectional Studies of Schizophrenia and the General UK Population

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT The missense SNP NC_000004.12:g.102267552C>T (also known as SLC39A8.p.(Ala391Thr), rs13107325) in SLC39A8 encodes a zinc transporter. This SNP has been linked to schizophrenia and is the likely causal variant for one of the genome‐wide association loci associated with the disorder. Using regression analyses, we tested whether the schizophrenia‐
Sophie E. Smart, Sophie E. Legge, Eilidh Fenner, Antonio F. Pardiñas, Grace Woolway, Amy J. Lynham, Valentina Escott‐Price, Jeremy Hall, Lawrence Wilkinson, Peter Holmans, Michael C. O'Donovan, Michael J. Owen, James T.R. Walters   +12 more
wiley   +1 more source