Find link

language: af: Afrikaans als: Alemannisch [Alemannic] am: አማርኛ [Amharic] an: aragonés [Aragonese] ar: العربية [Arabic] arz: مصرى [Egyptian Arabic] as: অসমীয়া [Assamese] ast: asturianu [Asturian] az: azərbaycanca [Azerbaijani] azb: تۆرکجه [Southern Azerbaijani] ba: башҡортса [Bashkir] bar: Boarisch [Bavarian] bat-smg: žemaitėška [Samogitian] be: беларуская [Belarusian] be-tarask: беларуская (тарашкевіца) [Belarusian (Taraškievica)] bg: български [Bulgarian] bn: বাংলা [Bengali] bpy: বিষ্ণুপ্রিয়া মণিপুরী [Bishnupriya Manipuri] br: brezhoneg [Breton] bs: bosanski [Bosnian] bug: ᨅᨔ ᨕᨘᨁᨗ [Buginese] ca: català [Catalan] ce: нохчийн [Chechen] ceb: Cebuano ckb: کوردیی ناوەندی [Kurdish (Sorani)] cs: čeština [Czech] cv: Чӑвашла [Chuvash] cy: Cymraeg [Welsh] da: dansk [Danish] de: Deutsch [German] el: Ελληνικά [Greek] en: English eo: Esperanto es: español [Spanish] et: eesti [Estonian] eu: euskara [Basque] fa: فارسی [Persian] fi: suomi [Finnish] fo: føroyskt [Faroese] fr: français [French] fy: Frysk [West Frisian] ga: Gaeilge [Irish] gd: Gàidhlig [Scottish Gaelic] gl: galego [Galician] gu: ગુજરાતી [Gujarati] he: עברית [Hebrew] hi: हिन्दी [Hindi] hr: hrvatski [Croatian] hsb: hornjoserbsce [Upper Sorbian] ht: Kreyòl ayisyen [Haitian] hu: magyar [Hungarian] hy: Հայերեն [Armenian] ia: interlingua [Interlingua] id: Bahasa Indonesia [Indonesian] io: Ido is: íslenska [Icelandic] it: italiano [Italian] ja: 日本語 [Japanese] jv: Basa Jawa [Javanese] ka: ქართული [Georgian] kk: қазақша [Kazakh] kn: ಕನ್ನಡ [Kannada] ko: 한국어 [Korean] ku: Kurdî [Kurdish (Kurmanji)] ky: Кыргызча [Kirghiz] la: Latina [Latin] lb: Lëtzebuergesch [Luxembourgish] li: Limburgs [Limburgish] lmo: lumbaart [Lombard] lt: lietuvių [Lithuanian] lv: latviešu [Latvian] map-bms: Basa Banyumasan [Banyumasan] mg: Malagasy min: Baso Minangkabau [Minangkabau] mk: македонски [Macedonian] ml: മലയാളം [Malayalam] mn: монгол [Mongolian] mr: मराठी [Marathi] mrj: кырык мары [Hill Mari] ms: Bahasa Melayu [Malay] my: မြန်မာဘာသာ [Burmese] mzn: مازِرونی [Mazandarani] nah: Nāhuatl [Nahuatl] nap: Napulitano [Neapolitan] nds: Plattdüütsch [Low Saxon] ne: नेपाली [Nepali] new: नेपाल भाषा [Newar] nl: Nederlands [Dutch] nn: norsk nynorsk [Norwegian (Nynorsk)] no: norsk bokmål [Norwegian (Bokmål)] oc: occitan [Occitan] or: ଓଡ଼ିଆ [Oriya] os: Ирон [Ossetian] pa: ਪੰਜਾਬੀ [Eastern Punjabi] pl: polski [Polish] pms: Piemontèis [Piedmontese] pnb: پنجابی [Western Punjabi] pt: português [Portuguese] qu: Runa Simi [Quechua] ro: română [Romanian] ru: русский [Russian] sa: संस्कृतम् [Sanskrit] sah: саха тыла [Sakha] scn: sicilianu [Sicilian] sco: Scots sh: srpskohrvatski / српскохрватски [Serbo-Croatian] si: සිංහල [Sinhalese] simple: Simple English sk: slovenčina [Slovak] sl: slovenščina [Slovenian] sq: shqip [Albanian] sr: српски / srpski [Serbian] su: Basa Sunda [Sundanese] sv: svenska [Swedish] sw: Kiswahili [Swahili] ta: தமிழ் [Tamil] te: తెలుగు [Telugu] tg: тоҷикӣ [Tajik] th: ไทย [Thai] tl: Tagalog tr: Türkçe [Turkish] tt: татарча/tatarça [Tatar] uk: українська [Ukrainian] ur: اردو [Urdu] uz: oʻzbekcha/ўзбекча [Uzbek] vec: vèneto [Venetian] vi: Tiếng Việt [Vietnamese] vo: Volapük wa: walon [Walloon] war: Winaray [Waray] yi: ייִדיש [Yiddish] yo: Yorùbá [Yoruba] zh: 中文 [Chinese] zh-min-nan: Bân-lâm-gú [Min Nan] zh-yue: 粵語 [Cantonese]

jump to random article

searching for Inborn errors of metabolism 100 found (192 total)

alternate case: inborn errors of metabolism

Archibald Garrod (1,992 words) [view diff] exact match in snippet view article find links to article

March 1936) was an English physician who pioneered the field of inborn errors of metabolism. He also discovered alkaptonuria, understanding its inheritance

dioxygenase, on chromosome 12q24. It is unusual in that most other inborn errors of metabolism are caused by loss-of-function mutations, and hence have recessive

journal of the Society for the Study of Inborn Errors of Metabolism. Official website Society for the Study of Inborn Errors of Metabolism v t e v t e

bone metabolism, lipid metabolism, adolescent gynecology, or inborn errors of metabolism.[citation needed] Most pediatric endocrinologists in North America

(1857–1936), an English physician who pioneered the field of inborn errors of metabolism. He attended University College School and King's College London

Neonatal cholestasis refers to elevated levels of conjugated bilirubin identified in newborn infants within the first few months of life. Conjugated hyperbilirubinemia

These diseases, of which there are many subtypes, are known as inborn errors of metabolism. Metabolic diseases can also occur when the liver or pancreas

the basis for biochemical and clinical investigation of the inborn errors of metabolism identified by newborn screening. He and Harvey Mudd of the National

also be the result of illnesses, medications, poisonings or inborn errors of metabolism that interfere directly with oxygen utilization by cells. The

Georg F.; Roth, Karl S. (eds.). Pediatric Endocrinology and Inborn Errors of Metabolism (1st ed.). New York: McGraw-Hill Medical. pp. 721–755. ISBN 978-0-07-143915-2

biochemical genetics, and pediatrics. Gahl conducts research on rare inborn errors of metabolism, focusing on the observation and treatment of patients in the

and the specific tests done will depend on the presentation. Inborn errors of metabolism causing metabolic disorders are rare and there are limited treatment

(October 2008). "Garrod's Croonian Lectures (1908) and the charter 'Inborn Errors of Metabolism': albinism, alkaptonuria, cystinuria, and pentosuria at age 100

with interests in food intolerance, gastrointestinal enzymes, inborn errors of metabolism, metabolic control, and lactase deficiency. Herman earned a Bachelor

the Co-ordinator of a major project on newborn screening for inborn errors of metabolism in Delhi state which aims to demonstrate the feasibility of mandatory

appreciation by medical specialists that genetic disorders, especially inborn errors of metabolism and birth defects, were of clinical interest. In 1976, a meeting

Wendy K. Chung is an American clinical and molecular geneticist and physician. She is the Chair of the Department of Pediatrics at Boston Children's Hospital

Neonatal Tyrosinemia Within a Mexican Population" (PDF). Journal of Inborn Errors of Metabolism and Screening. 5: 232640981774423. doi:10.1177/2326409817744230

clues to the differential diagnosis of high blood sugar in the inborn errors of metabolism. Metabolic Acidosis at eMedicine Kussmaul's respiration at Whonamedit

(1981). "Experience and problems of newborn mass screening for inborn errors of metabolism in Japan". Acta Paediatrica Japonica. 23 (1): 24–34. doi:10.1111/j

hydrocephalus Frog face – intranasal disease Coarse facies – many inborn errors of metabolism Adenoid facies – developmental facial traits caused by adenoid

ISBN 9789400956605. Crook, Martin Andrew (2012). "Chapter 27: Inborn errors of metabolism". Clinical biochemistry and metabolic medicine (8th ed.). London:

inborn errors of metabolism: lecture II: alkaptonuria". Lancet. 2 (4428): 73–79. doi:10.1016/s0140-6736(01)78041-5. Garrod AE (1909). Inborn errors of

"Defects in the synthesis of cysteinyl leukotrienes: a new group of inborn errors of metabolism". J. Inherit. Metab. Dis. 23 (4): 404–8. doi:10.1023/A:1005664204956

Neonatal Tyrosinemia Within a Mexican Population" (PDF). Journal of Inborn Errors of Metabolism and Screening. 5: 232640981774423. doi:10.1177/2326409817744230

PMC 1552491. PMID 5929271. Milne, M. D. (1966). "Lessons from Inborn Errors of Metabolism". Proceedings of the Royal Society of Medicine. 59 (11 Pt 1):

transplantation to cure hematological malignancies, genetic disorders and inborn errors of metabolism, aplastic and Fanconi’s anemia and genetic & acquired immune

secondary siderosis in the newborn as congenital infections, inborn errors of metabolism, hematologic and vascular disorders, cholestasis and biliary

"Incidence of Inborn Errors of Metabolism by Expanded Newborn Screening in a Mexican Hospital". Journal of Inborn Errors of Metabolism and Screening.

Neonatal Tyrosinemia Within a Mexican Population". Journal of Inborn Errors of Metabolism. 5 (1): 1–4. doi:10.1177/2326409817744230. Retrieved 12 March

been reproduced in many textbooks. Nicholson also created an "Inborn Errors of Metabolism" map for medical students, who felt the Nicholson Chart too focused

evaluate for congenital infections, metabolic disturbances, inborn errors of metabolism, drug withdrawal, and trauma. Given this is a diagnosis of exclusion

condition caused by high levels of ammonia, which is due to inborn errors of metabolism (including urea cycle disorder or multiple carboxylase deficiency)

was a professor in mitochondrial genetics at the Center for Inborn Errors of Metabolism at Karolinska Institutet and Karolinska University Hospital.

training in pediatrics as a fellow in biochemical genetics and inborn errors of metabolism from 1994 to 1997 at the University of California, San Diego

"Incidence of Inborn Errors of Metabolism by Expanded Newborn Screening in a Mexican Hospital" (PDF). Journal of Inborn Errors of Metabolism and Screening

peer-reviewed articles and is considered an international expert on inborn errors of metabolism, specifically urea cycle disorders. His laboratory is best known

A, Bosboom D, Roels F, de Brouwer AP, Wevers RA (Jan 2015). "Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids". Journal

megaloblastic anemia include copper deficiency, medications, and certain inborn errors of metabolism. As with other types of anemia, treatment depends on severity

Drillien. Oxford,London : Blackwell Scientific Publications., 1974 Inborn errors of metabolism in humans : monograph based upon proceedings of the international

Neonatal Tyrosinemia Within a Mexican Population". Journal of Inborn Errors of Metabolism and Screening. 5: 232640981774423. doi:10.1177/2326409817744230

Science. 1981–1982 President of the Society for the Study of Inborn Errors of Metabolism. 1977–1978 President of the Association of Clinical Biochemists

2016-08-25. Retrieved 2016-08-11. "Glycogen Storage Disorders. Inborn errors of metabolism | Patient". Patient. Archived from the original on 2017-12-06

Derek A. (1 January 2012). "Expanded Newborn Screening for Inborn Errors of Metabolism: Overview and Outcomes". Advances in Pediatrics. 59 (1): 209–245

Mitsubuchi H, Owada M, Endo F (June 2005). "Markers associated with inborn errors of metabolism of branched-chain amino acids and their relevance to upper levels

involving culturing of cells at 40 degrees C: implications for other inborn errors of metabolism". Hum. Mutat. 24 (2): 130–9. doi:10.1002/humu.20062. PMID 15241794

in patients with cobalamin and folate deficiency and related inborn errors of metabolism". Metabolism. 42 (11): 1448–60. doi:10.1016/0026-0495(93)90198-W

Georg F.; Roth, Karl S. (eds.). Pediatric Endocrinology and Inborn Errors of Metabolism (1st ed.). New York: McGraw-Hill Medical. pp. 153–161. ISBN 978-0-07-143915-2

adrenoleukodystrophy. Two-thirds of the cases can be attributed to inborn errors of metabolism. Diagnosis typically involves a combination of biochemical testing

hypoglycemia, due to causes other than hyperinsulinism; in various inborn errors of metabolism, and intentionally induced via a ketogenic diet, and in ketoacidosis

Biochemical Genetics (1959) Archibald Garrod and Harry Harris. Inborn Errors of Metabolism, third edition 1963 The Principles of Human Biochemical Genetics

any of its components. Patients with carnitine deficiency or inborn errors of metabolism that may result in clinically significant carnitine deficiency

cycle and other disorders of hyperammonemia", Biomarkers in Inborn Errors of Metabolism, San Diego: Elsevier, pp. 103–123, doi:10.1016/b978-0-12-802896-4

occur following paracetamol overdose, as well as in certain inborn errors of metabolism, causing high anion gap metabolic acidosis. Pyroglutamic acid

linked to confounding homozygosity at additional recessive loci. Inborn errors of metabolism are not typically associated with malformation and subsequent

cultured somatic cells; he has also conducted much research on inborn errors of metabolism, particularly urea cycle disorders. In 1988, Beaudet's laboratory

Neonatal Tyrosinemia Within a Mexican Population" (PDF). Journal of Inborn Errors of Metabolism and Screening. 5: 232640981774423. doi:10.1177/2326409817744230

(August 2006). "An Overview of Expanded Newborn Screening for Inborn Errors of Metabolism" (PDF). Nutrition Issues in Gastroenterology. Archived from the

Neonatal Tyrosinemia Within a Mexican Population" (PDF). Journal of Inborn Errors of Metabolism and Screening. 5: 232640981774423. doi:10.1177/2326409817744230

ISBN 095-7-79514-9 Christodoulou, J. (2002). A clinical approach to inborn errors of metabolism. In Rudolph AM, Kamei RK, Overby KJ (Eds.), Rudolph's Fundamentals

1937; supplement 82: 1–254. J. Waldenström: "The porphyrias as inborn errors of metabolism", The American Journal of Medicine, 1957, 22: 758–773. Jan G

sarcomere or cytoskeletal diseases, neuromuscular disorders, inborn errors of metabolism, malformation syndromes and sometimes are unidentified. Non-genetic

Gambello, Michael J. & Sutton, V. Reid (eds.). Genetics Diagnosis, Inborn Errors of Metabolism and Newborn Screening: An Update. Elsevier Health Sciences. p

orthomolecularists, including individual biochemical variation and inborn errors of metabolism, debuted in scientific papers early in the 20th century. In 1948

Newborn Screening (NBS) Connect Patient Registry for patients with inborn errors of metabolism DuchenneConnect Patient Registry for patients with Duchenne and

primary consultant to other NIH investigators on diseases of inborn errors of metabolism and in diseases with inherited or congenital abnormalities. She

hormones.[citation needed] Most cases of EPP are results of inborn errors of metabolism but the metabolic defect in some patients may be acquired. Mutation

resulted in a paradigm shift in the study of amyloid self-assembly, inborn errors of metabolism disorders, and neurodegenerative diseases. This achievement is

human diseases and pathway data for more than 200 different inborn errors of metabolism. The biochemical information includes nearly 6,000 protein (and

Lazarus-Barlow, Radioactivity and Carcinoma 1908 Archibald Garrod, Inborn Errors of Metabolism 1907 William John Simpson, On Plague 1906 William Halse Rivers

Samantha; Linaburg, Taylor; Nguyen, Brian J. (August 2023). "Inborn Errors of Metabolism and Their Corneal Manifestations". Advances in Ophthalmology

Pennsylvania specializing in screening newborns for various inborn errors of metabolism such as phenylketonuria, hypothyroidism, and sickle-cell disease

have been tested to deliver key phosphorylated metabolites in inborn errors of metabolism, such as phosphopantothenate for PANK2 deficiency, however these

pathway. Of these, 18 have been associated with human disease as inborn errors of metabolism. Furthermore, studies indicate that lipid disorders are involved

deficiency. Two major issues that cause decreased gluconogeneis are inborn errors of metabolism and adrenal insufficiency. Most common causes of depleted glycogen

described in which there are no pathological mutations, but inborn errors of metabolism, specifically related to ubiquitination and proteasome machineries

hypothyroidism Placental insufficiency Craniosynostosis Genetic Inborn errors of metabolism Congenital disorder of glycosylation Mitochondrial disorders

development of next generation orphan drugs for patients with inborn errors of metabolism". Journal of Inherited Metabolic Disease. 33 (6): 649–58. doi:10

311–6. PMID 8889268. Enns GM, Packman S (2001). "Diagnosing Inborn Errors of Metabolism in the Newborn: Clinical Features" (PDF). NeoReviews. 2 (8):

neurocysticercosis or viral encephalitis. Metabolic disorders: inborn errors of metabolism or mitochondrial diseases affecting neuronal function. Immune-mediated

Neonatal Tyrosinemia Within a Mexican Population". Journal of Inborn Errors of Metabolism and Screening. 5: 232640981774423. doi:10.1177/2326409817744230

supplementation of high amounts of riboflavin is lifesaving. Other inborn errors of metabolism include riboflavin-responsive multiple acyl-CoA dehydrogenase

giving birth can provoke psychosis, termed postpartum psychosis inborn errors of metabolism, such as Wilson's disease, porphyria, and homocysteinemia. nutritional

off a Mendelian revolution 1902: Archibald Garrod discovered inborn errors of metabolism. An explanation for epistasis is an important manifestation of

K, Hoffmann GF, Roth KS (eds.). Pediatric Endocrinology and Inborn Errors of Metabolism. New York: McGraw Hill Medical. p. 26. Widaman KF (2009-02-01)

heart rate response of sinus tachycardia can be seen in some inborn errors of metabolism that result in metabolic myopathies, such as McArdle disease

Mohammad; Al-Owain, Mohammed (2013). "Autism Spectrum Disorders and Inborn Errors of Metabolism: An Update". Pediatric Neurology. 49 (4): 232–6. doi:10.1016/j

vitamin A deficiency, accidents and injuries, sickle cell disease, inborn errors of metabolism, type 1 diabetes, and many others. In 2019, Igor Rudan co-founded

Mitochondrial disease Mitochondrial respiratory chain defects Inborn errors of metabolism Glycine encephalopathy Cortical malformations Cerebral asymmetry

Colombo, J. P. and Desnick, R. J., eds.: Recent Advances in Inborn Errors of Metabolism. Karger, Basel, pp. 332, 1987. ISBN 3-8055-4772-2 Desnick, R

Jerry; Blau, Nenad (January 2019). "A proposed nosology of inborn errors of metabolism". Genetics in Medicine. 21 (1): 102–106. doi:10.1038/s41436-018-0022-8

Addison's disease; fibromyalgia; heart failure and heart attack; HIV inborn errors of metabolism such as fructose malabsorption; infectious diseases such as infectious

Myanmar and Vietnam. Newborn metabolic screening screens for inborn errors of metabolism from urine samples that can impact the health of newborns. Metabolic

of 0.06779! (96.5%), followed by retinal dystrophy, glaucoma, inborn errors of metabolism, sickle cell disease/thalassemia, deafness, dysmorphic/dysplasia

impairments (vision, hearing) Metabolic disorders (PKU, galactosemia, inborn errors of metabolism) Known/Suspected genetic disorders (e.g., Down syndrome, Cystic

subgroups, such as children with autism and epilepsy or specific inborn errors of metabolism (ketogenic diet), children with known food intolerance/allergy

squares or rods which are polarizable. People with certain rare inborn errors of metabolism have a propensity to accumulate crystal-forming substances in

M, Almeida L, Reimer A, Bosboom D, Roels F, et al. (2015). "Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids". Journal

PMID 21907832. Orchard, Paul MD. "Stem Cell Transplant for Inborn Errors of Metabolism". Clinicaltrials.gov. U.S. National Institutes of Health. Retrieved

Archibald Garrod – British physician who pioneered the field of inborn errors of metabolism Samuel Gee – British physician and paediatrician; published the