Results 131 to 140 of about 61,025 (285)

Neonatal Cholestasis Progressing to a Multisystem Syndrome With Liver Cirrhosis in Two Siblings With FARSA Deficiency: An Evolving Hepatological Phenotype

JIMD Reports, Volume 66, Issue 3, May 2025.
ABSTRACT Biallelic variants in FARSA or FARSB are associated with reduced cytoplasmic phenylalanyl‐tRNA synthetase (FARS1) activity and underlie a multisystem syndrome characterized by growth limitation, developmental delay, brain calcifications, interstitial lung disease (ILD), and liver involvement.
Y. Aelvoet, P. Verloo, A. Vanlander, S. Vande Velde, S. Van Biervliet, P. De Bruyne, L. Hoste, A. Dheedene, L. Pottie, A. Hoorens, M. Mendes, R. De Bruyne   +11 more
wiley   +1 more source

Therapy options in pulmonary alveolar proteinosis

Therapeutic Advances in Respiratory Disease, 2010
Pulmonary alveolar proteinosis is a rare condition characterized by the accumulation of lipoproteinaceous material within the airspaces, resulting in impaired gas transfer, and clinical manifestations ranging from asymptomatic to severe respiratory ...
Maurizio Luisetti, Zamir Kadija, Francesca Mariani, Giuseppe Rodi, Ilaria Campo, Bruce C. Trapnell   +5 more
doaj   +1 more source

Neumonía lipídica endógena en 2 gatos de raza Persa [PDF]

, 2006
En este trabajo se describen dos casos de neumonía lipídica endógena en dos gatos de raza persa. En ambos se llegó al diagnóstico por necropsia. Se describen los tratamientos aplicados y se discute el diagnóstico y tratamientos de elección, así como ...
Avellaneda, Ana, Font Utset, Artur
core  

CLINICAL APPLICABILITY OF PROPOSED ALGORITHM FOR IDENTIFYING INDIVIDUALS AT RISK FOR HEREDITARY HEMATOLOGIC MALIGNANCIES [PDF]

, 2017
Over the past decade, more than 12 genes have been identified to cause hereditary predispositions to hematologic malignancies. These syndromes are characterized by an increased risk to develop myelodysplastic syndrome (MDS), acute myeloid leukemia (AML),
Clifford, Maggie
core   +1 more source

Lung surfactant in subacute pulmonary disease

Respiratory Research, 2002
Pulmonary surfactant is a surface active material composed of both lipids and proteins that is produced by alveolar type II pneumocytes. Abnormalities of surfactant in the immature lung or in the acutely inflamed mature lung are well described.
Spragg Roger G, Devendra Gehan
doaj   +1 more source

A Fatal Case of Pulmonary Alveolar Proteinosis [PDF]

, 1962
R. L. Ray, R. Salm
openalex   +1 more source

Prevalence and healthcare burden of pulmonary alveolar proteinosis

Orphanet Journal of Rare Diseases, 2018
Pulmonary alveolar proteinosis (PAP) is a rare syndrome of alveolar surfactant accumulation, resulting hypoxemic respiratory failure, and increased infection risk.
C. McCarthy, R. Avetisyan, B. Carey, C. Chalk, B. Trapnell   +4 more
semanticscholar   +1 more source

Autoimmune pulmonary alveolar proteinosis in a patient with sarcoidosis

Clinical Case Reports, 2019
Key Clinical Message Steroids used to treat sarcoidosis may induce aPAP. The cooccurrence of sarcoidosis and autoimmune pulmonary alveolar proteinosis (aPAP) is rare.
Yuko Tanaka, Toshihiro Shirai, Kazuhiro Asada, Aya Muramatsu, Mineo Katsumata, Takafumi Suda   +5 more
doaj   +1 more source

PULMONARY WASHINGS AND BLOOD IN PULMONARY ALVEOLAR PROTEINOSIS (PAP) [PDF]

, 1977
Lance Sieger, Joan A. Stratton, Karlman Washerman, Bascom F. Anthony   +3 more
openalex   +1 more source

Role of Physical Therapy in Management of Pulmonary Alveolar Proteinosis [PDF]

, 1988
Lora Bracci
openalex   +1 more source