Inborn disease

Ebook "Stem cell therapy in lysosomal storage diseases" discusses the history, current practice and future perspectives of stem cells in inborn errors of metabolism (IEM) and provides an international perspective on progress, limitations, and future directions in the field. Beginning with an overview of these diseases, the book covers the breadth of this topic from treatment options, bone marrow transplantation, and alternative treatment options, through long-term outcomes and future perspectives.

178p ladongphongthanh1008 22-04-2024 5 2   Download

Curated databases of genetic variants assist clinicians and researchers in interpreting genetic variation. Yet, these databases contain some misclassified variants. It is unclear whether variant misclassification is abating as these databases rapidly grow and implement new guidelines.

19p vicwell 29-02-2024 4 1   Download

Part 2 book "Neurology board review - An illustrated study guide" includes content: Neurocutaneous syndromes; inflammatory and demyelinating disorders of the central nervous system; neurology of infectious diseases; neoplasms of the nervous system and related topics; toxic and metabolic disorders of the nervous system; headache; neurology of sleep disorders; disorders of the spinal cord and anterior horn cells; disorders of the peripheral nervous system; disorders of the autonomicnervous system; disorders of neuromusculartransmission; disorders of muscle; inborn errors of metabolism.

483p muasambanhan07 20-02-2024 4 0   Download

Phenylketonuria (PKU) is an autosomal recessive disease that belongs to a group of disorders resulting from inborn errors of protein metabolism. It was the first disease included in neonatal screening. Neonatal screening has allowed an early diagnosis and treatment of the disease.

5p vitiki 30-01-2024 3 2   Download

Part 2 book "Illustrated textbook of paediatrics" includes content: Respiratory disorders; cardiac disorders; kidney and urinary tract disorders; genital disorders, liver disorders; malignant disease, kaematological disorders, child and adolescent mental health, dermatological disorders, diabetes and endocrinology, inborn errors of metabolism, musculoskeletal disorders, neurological disorders, adolescent medicine, global child health.

291p oursky03 28-08-2023 1 1   Download

Glutaric aciduria type 2 is a rare inborn disease of fatty acid metabolism. The clinical manifestation of this disease is heterogeneous and ranges from severe neonatal forms to mild late-onset forms.

5p viwhitewolf 03-07-2023 4 2   Download

Gaucher disease is an autosomal recessive inborn error of metabolism that causes disorders of blood, bone, and central nervous system as well as hepatosplenomegaly. We present the case of a carrier of Gaucher disease with gestational thrombocytopenia and anemia that required blood transfusion therapy.

5p vigamora 23-05-2023 5 2   Download

Fabry disease is a rare inborn error of metabolism with profound clinical consequences if untreated. It is caused by the deficiency of α galactosidase A enzyme and is the only lysosomal storage disorder with an X linked inheritance.

4p vimanama2711 28-07-2020 27 1   Download

Improvements in health care for children with chronic diseases must be informed by research that emphasizes outcomes of importance to patients and families. To support a program of research in the field of rare inborn errors of metabolism (IEM).

9p vichengshin2711 26-02-2020 16 1   Download

Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase (mHS) deficiency is an autosomal recessive inborn error of metabolism, which will give rise to failure of ketogenesis in liver during illness or fasting. It is a very rare disease with only a few patients reported worldwide, most of which had a good prognosis after proper therapies.

6p vidublin2711 13-01-2020 13 1   Download

The main studied aspects were risk factors in order to initial investigate relationship between severe infections and TCD4 cell depletion. Subjects and methods: Cross-sectional studies. 79 patients with severe infection and negative HIV test who were admitted at the Intensive Care Unit and Emergency Department of National Hospital for Tropical Diseases (Vietnam) from April 2017 to March 2018 were evolved in our study. Results: The mean age at diagnosis was 57.4 ± 15.48 years, range: 24 to 90. 60 patients (76%) were males, 19 (24%) were females.

8p caygaolon 01-11-2019 18 1   Download

(BQ) Part 2 of the document Neonatal care - Handbook of manual (Seventh edition) has contents: Common neonatal procedures, skin care, disorders of sex development, inborn errors of metabolism, orthopaedic problems, neural tube defects, neonatal seizures, intracranial hemorrhage, lyme disease, congenital toxoplasmosis,... and other contents. Invite you to consult the details.

445p thuongdanguyetan10 09-03-2019 37 2   Download

(BQ) Part 1 of the document Clinical chemistry (organ function tests, laboratory investigation) presents the following contents: Laboratory investigations, miscellaneous, inborn metabolic diseases (inborn errors of metabolism).

215p thangnamvoiva3 28-06-2016 34 1   Download

CKD in children is the result of heterogeneous  diseases  of  the  kidney  and  urinary  tract  that  range from common congenital malformations  of  the  urinary  tract,  to  rare  inborn  errors  of  metabolism that affect kidney  function[1] . CKD  is  an  irreversible  condition  that  eventually  progresses  to end stage renal disease  (ESRD).  It is an important cause of morbidity and  mortality in children worldwide [2,3] .       The  causes  of  CKD  vary  from  one  geographic area to another due to genetic and  environmental  factors.

7p connicquy 14-12-2012 53 1   Download

Modern neuroimaging tools allow unprecedented opportunities for understanding brain neuroanatomy and function in health and disease. Each available technique carries with it a particular balance of strengths and limitations, such that converging evidence based on multiple methods provides the most powerful approach for advancing our knowledge in the fields of clinical and cognitive neuroscience. In addition to offering fine-grained in-vivo neuroanatomical specification, neuroimaging methods also provide the opportunity to non-invasively explore brain function.

590p wqwqwqwqwq 21-07-2012 84 20   Download

Since the publication of the first edition sixteen years ago, Inborn Metabolic Diseases – Diagnosis and Treatment has become a classic textbook, indispensable for those involved in the care of children and adults with inborn errors of metabolism, including pediatricians, biochemists, dieticians, neurologists, internists, geneticists, psychologists, nurses, and social workers. This new 4th edition has been extensively revised.

548p 951864273 10-05-2012 90 16   Download

Peroxisome là bào quan tế bào lấy được tên của họ từ sự hiện diện của catalase, một enzyme có thể chuyển đổi hydrogen peroxide thành oxy và nước. Với các thể tiêu bào, họ được tìm thấy trong tất cả các tế bào của con người ngoại trừ hồng cầu, tuy nhiên, không giống như các thể tiêu bào

53p meomap10 27-12-2011 53 5   Download

Heme (sắt protoporphyrin), một metalloporphyrin với sắt như các nguyên tử kim loại trung tâm, là các nhóm chân tay giả cho hemoproteins. Nó được sản xuất chủ yếu trong tủy xương (hemoglobin), và trong gan (đối với các enzyme cytochrome P450). Con đường (hình 36,1) bao gồm tám enzyme,

55p meomap10 27-12-2011 80 6   Download

Hai khuyết tật di truyền theo quá trình trao đổi chất biotin được biết: holocarboxylase synthetase (HCS) thiếu hụt và thiếu hụt biotinidase. Cả hai dẫn đến thiếu hụt của tất cả các carboxylases biotindependent, tức là thiếu hụt men carboxylase nhiều (MCD). Trong HCS thiếu hụt, các ràng buộc của biotin

55p meomap10 27-12-2011 92 5   Download

mô gan cũng có các thụ thể LDL phong phú. Cholesterol LDL cũng có thể được loại bỏ thông qua cơ chế thụ thể LDL không. Một lớp học của các thụ thể bề mặt tế bào, gọi là thụ thể xác thối, tăng LDL biến đổi về mặt hóa học như oxy hóa LDL (hình 32,1), đã được tạo ra bằng cách giải phóng các gốc oxy từ các tế bào nội mô.

55p meomap10 27-12-2011 82 5   Download