Search Results - "rare diseases"

Hipoplasia dérmica focal (Síndrome de Goltz): amplia variabilidad fenotípica Focal Dermal Hypoplasia (Goltz's Syndrome): Wide Phenotypic Variability by JC Acosta, A Motta, JC Prieto

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Rare atypical type a thymoma: a case report and literature review by Liling Qin, Fanrong Wang, Liqiao Chen, Tao Li, Gang Wang, Ning Zhou

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Pharmaceutical Oral Formulation of Methionine as a Pediatric Treatment in Inherited Metabolic Disease by Benjamin Querin, Arnaud Schweitzer-Chaput, Salvatore Cisternino, Sylvain Auvity, Anne-Sophie Fauqueur, Abdel Negbane, Alice Hadchouel, Joël Schlatter, Camille Cotteret

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Patient selection considerations for AADC deficiency gene therapy by Agathe Roubertie, Irina Anselm, Bruria Ben‐Zeev, Wuh‐Liang Hwu, Ashutosh Kumar, Berrin Monteleone, Shin‐ichi Muramatsu, Vincenzo Leuzzi, Salvador Ibáñez, Scellig Stone, Phillip L. Pearl

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Rare Cases of Pediatric Vasoactive Intestinal Peptide Secreting Tumor With Literature Review: A Challenging Etiology of Chronic Diarrhea by Pai-Jui Yeh, Shih-Hsiang Chen, Jin-Yao Lai, Ming-Wei Lai, Cheng-Hsun Chiu, Hsun-Chin Chao, Shih-Hsin Chen, Ren-Chin Wu, Chao-Jan Wang, Chien-Chang Chen

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Pathophysiology, clinical manifestations and current management of IL-1 mediated monogenic systemic autoinflammatory diseases, a literature review by Yandie Li, Meiping Yu, Meiping Lu

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Nasal polyposis in pediatric patients with Cornelia de Lange syndrome: endoscopic diagnosis, treatment and follow up in two case reports by Roberta Onesimo, Rita De Santis, Chiara Leoni, Mario Rigante, Marco Piastra, Elisabetta Sforza, Angelo Selicorni, Giuseppe Zampino

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Preterm Infant with Generalized Arterial Calcification of Infancy Who Survived Due to Early Diagnosis and Appropriate Treatment with Bisphosphonates: A Case Report by Masato Tanaka, Akira Kobayashi, Haruhiro Kuwabara, Jun Nirei, Junichi Ozawa, Kentaro Sawano, Nao Shibata, Keisuke Nagasaki, Akihiko Saitoh

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Experiences of Families Caring for Children with Newborn Screening-Related Conditions: Implications for the Expansion of Genomics in Population-Based Neonatal Public Health Program... by Lynn Bush, Hannah Davidson, Shani Gelles, Dawn Lea, Laura M. Koehly

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Unexpected endometrial malacoplakia related to abortion and placental rests retention: a case report by Antonio d'Amati, Emilio Bellitti, Leonardo Resta

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Decision Paralysis: Recognition and Patient-Centered Discourse by Celine M. Schreidah, Lauren M. Fahmy, Brigit A. Lapolla, Larisa J. Geskin

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Surgical Treatment of Sprengel's Deformity: A Systematic Review and Meta-Analysis by Paola Zarantonello, Giovanni Luigi Di Gennaro, Marco Todisco, Piergiorgio Cataldi, Stefano Stallone, Andrea Evangelista, Daniele Ferrari, Diego Antonioli, Giovanni Trisolino

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A Neonate with Autosomal Dominant Pseudohypoaldosteronism Type 1 Due to a Novel Microdeletion of the <i>NR3C2</i> Gene at 4q31.23 by Su Jin Kim, Dasom Park, Woori Jang, Juyoung Lee

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How do people with neurofibromatosis type 1 (the forgotten victims) live? A grounded theory study by Samira Foji, Eesa Mohammadi, Akram Sanagoo, Leila Jouybari

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HPO-driven virtual gene panel: a new efficient approach in molecular autopsy of sudden unexplained death by Ulrike Schön, Anna Holzer, Andreas Laner, Stephanie Kleinle, Florentine Scharf, Anna Benet-Pagès, Oliver Peschel, Elke Holinski-Feder, Isabel Diebold

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Síndrome cérebro-pulmão-tireoide: tratamento e prognóstico com o uso de cloridrato de metilfenidato by Barbara Bianchi, Camila Diniz Gil, Laura Vagnini, Jacqueline Harouche Rodrigues Fonseca

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Retroperitoneal fibrosis (ormond's disease). Clinical case by E. N. Skryabina, N. A. Magdeeva, I. S. Badurgov

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Secondary Generalized Cutaneous Mucinosis Developed During Etanercept Treatment in a Patient with Psoriasis by Zhou X, Mubanga D, Chen Z, Bi X

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First third-generation CAR T cell application targeting CD19 for the treatment of systemic IgM AL amyloidosis with underlying marginal zone lymphoma by Felix Korell, Stefan Schönland, Anita Schmitt, Madelaine Jansen, Kiavasch Farid, Carsten Müller-Tidow, Peter Dreger, Michael Schmitt, Ute Hegenbart

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Loeffler's Endocarditis in a patient with a new diagnosed Churg-Strauss syndrome(CSS)：A Case Report by Wei-Chen Lin, Kaun-Chih Huang, Ming-Chen Hsiung, An-Ning Feng

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