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Tyrosinemia type I(TYRSN1)

MedGen UID:
75688
Concept ID:
C0268490
Disease or Syndrome
Synonyms: Deficiency of fumarylacetoacetase; FAH deficiency; Fumarylacetoacetase deficiency; Hepatorenal tyrosinemia; Tyrosinemia type 1; TYRSN1
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Deficiency of beta-diketonase (124536006); Deficiency of fumarylacetoacetase (124536006); Tyrosinemia type I (410056006)
 
Gene (location): FAH (15q25.1)
OMIM®: 276700
Orphanet: ORPHA882

Disease characteristics

Excerpted from the GeneReview: Tyrosinemia Type I
Untreated tyrosinemia type I usually presents either in young infants with severe liver involvement or later in the first year with liver dysfunction and renal tubular dysfunction associated with growth failure and rickets. Untreated children may have repeated, often unrecognized, neurologic crises lasting one to seven days that can include change in mental status, abdominal pain, peripheral neuropathy, and/or respiratory failure requiring mechanical ventilation. Death in the untreated child usually occurs before age ten years, typically from liver failure, neurologic crisis, or hepatocellular carcinoma. Combined treatment with nitisinone and a low-tyrosine diet has resulted in a greater than 90% survival rate, normal growth, improved liver function, prevention of cirrhosis, correction of renal tubular acidosis, and improvement in secondary rickets. [from GeneReviews]
Authors:
Lisa Sniderman King  |  Cristine Trahms  |  C Ronald Scott   view full author information

Additional descriptions

From OMIM
Hereditary tyrosinemia type I is an autosomal recessive disorder caused by deficiency of fumarylacetoacetase (FAH), the last enzyme of tyrosine degradation. The disorder is characterized by progressive liver disease and a secondary renal tubular dysfunction leading to hypophosphatemic rickets. Onset varies from infancy to adolescence. In the most acute form patients present with severe liver failure within weeks after birth, whereas rickets may be the major symptom in chronic tyrosinemia. Untreated, patients die from cirrhosis or hepatocellular carcinoma at a young age (summary by Bliksrud et al., 2005). Genetic Heterogeneity of Hereditary Tyrosinemia Tyrosinemia type II (TYRSN2; 276600), also known as Richner-Hanhart syndrome, is caused by mutation in the TAT gene (613018) on chromosome 16q22. Tyrosinemia type III (TYRNS3; 276710) is caused by mutation in the HPD gene (609695) on chromosome 12q24.  http://www.omim.org/entry/276700
From GHR
Tyrosinemia is a genetic disorder characterized by disruptions in the multistep process that breaks down the amino acid tyrosine, a building block of most proteins. If untreated, tyrosine and its byproducts build up in tissues and organs, which can lead to serious health problems.There are three types of tyrosinemia, which are each distinguished by their symptoms and genetic cause. Tyrosinemia type I, the most severe form of this disorder, is characterized by signs and symptoms that begin in the first few months of life. Affected infants fail to gain weight and grow at the expected rate (failure to thrive) due to poor food tolerance because high-protein foods lead to diarrhea and vomiting. Affected infants may also have yellowing of the skin and whites of the eyes (jaundice), a cabbage-like odor, and an increased tendency to bleed (particularly nosebleeds). Tyrosinemia type I can lead to liver and kidney failure, softening and weakening of the bones (rickets), and an increased risk of liver cancer (hepatocellular carcinoma). Some affected children have repeated neurologic crises that consist of changes in mental state, reduced sensation in the arms and legs (peripheral neuropathy), abdominal pain, and respiratory failure. These crises can last from 1 to 7 days. Untreated, children with tyrosinemia type I often do not survive past the age of 10.Tyrosinemia type II can affect the eyes, skin, and mental development. Signs and symptoms often begin in early childhood and include eye pain and redness, excessive tearing, abnormal sensitivity to light (photophobia), and thick, painful skin on the palms of their hands and soles of their feet (palmoplantar hyperkeratosis). About 50 percent of individuals with tyrosinemia type II have some degree of intellectual disability.Tyrosinemia type III is the rarest of the three types. The characteristic features of this type include intellectual disability, seizures, and periodic loss of balance and coordination (intermittent ataxia).About 10 percent of newborns have temporarily elevated levels of tyrosine (transient tyrosinemia). In these cases, the cause is not genetic. The most likely causes are vitamin C deficiency or immature liver enzymes due to premature birth.  https://ghr.nlm.nih.gov/condition/tyrosinemia

Clinical features

Pancreatic islet-cell hyperplasia
MedGen UID:
108598
Concept ID:
C0597167
Finding
Hyperplasia of the islets of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells.
Increased incidence of hepatocellular carcinoma
MedGen UID:
358104
Concept ID:
C1867955
Finding
A kind of neoplasm of the liver that originates in hepatocytes and presents macroscopically as a soft and hemorrhagic tan mass in the liver.
Nephrocalcinosis
MedGen UID:
10222
Concept ID:
C0027709
Disease or Syndrome
A condition characterized by calcification of the renal tissue itself. It is usually seen in distal RENAL TUBULAR ACIDOSIS with calcium deposition in the DISTAL KIDNEY TUBULES and the surrounding interstitium. Nephrocalcinosis causes RENAL INSUFFICIENCY.
Glomerulosclerosis
MedGen UID:
61248
Concept ID:
C0178664
Disease or Syndrome
Accumulation of scar tissue within the glomerulus.
Fanconi renotubular syndrome 1
MedGen UID:
137960
Concept ID:
C0341703
Disease or Syndrome
Fanconi renotubular syndrome is a consequence of decreased solute and water reabsorption in the proximal tubule of the kidney. Patients have polydipsia and polyuria with phosphaturia, glycosuria, and aminoaciduria. They may develop hypophosphatemic rickets or osteomalacia, acidosis, and a tendency toward dehydration. Some will eventually develop renal insufficiency. Common laboratory abnormalities include glucosuria with a normal serum glucose, hyperaminoaciduria, hypophosphatemia, progressive renal insufficiency, renal sodium and potassium wasting, acidosis, uricosuria, and low-molecular-weight proteinuria (summary by Lichter-Konecki et al., 2001). Genetic Heterogeneity of Fanconi Renotubular Syndrome Fanconi renotubular syndrome-1 has been mapped to chromosome 15q15.3. See also FRTS2 (613388), caused by mutation in the SLC34A1 gene (182309) on chromosome 5q35; FRTS3 (615605), caused by mutation in the EHHADH gene (607037) on chromosome 3q27; and FRTS4 (616026), which is associated with maturity-onset diabetes of the young (MODY), caused by mutation in the HNF4A gene (600281) on chromosome 20q13.
Enlarged kidney
MedGen UID:
108156
Concept ID:
C0542518
Finding
An abnormal increase in the size of the kidney.
Renal insufficiency
MedGen UID:
332529
Concept ID:
C1565489
Disease or Syndrome
A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.
Hypertrophic cardiomyopathy
MedGen UID:
2881
Concept ID:
C0007194
Disease or Syndrome
Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality.
Gastrointestinal hemorrhage
MedGen UID:
8971
Concept ID:
C0017181
Pathologic Function
Your digestive or gastrointestinal (GI) tract includes the esophagus, stomach, small intestine, large intestine or colon, rectum, and anus. Bleeding can come from any of these areas. The amount of bleeding can be so small that only a lab test can find it. . Signs of bleeding in the digestive tract depend where it is and how much bleeding there is. Signs of bleeding in the upper digestive tract include. -Bright red blood in vomit. -Vomit that looks like coffee grounds. -Black or tarry stool. -Dark blood mixed with stool. Signs of bleeding in the lower digestive tract include. -Black or tarry stool. -Dark blood mixed with stool. -Stool mixed or coated with bright red blood. GI bleeding is not a disease, but a symptom of a disease. There are many possible causes of GI bleeding, including hemorrhoids, peptic ulcers, tears or inflammation in the esophagus, diverticulosis and diverticulitis, ulcerative colitis and Crohn's disease, colonic polyps, or cancer in the colon, stomach or esophagus. The test used most often to look for the cause of GI bleeding is called endoscopy. It uses a flexible instrument inserted through the mouth or rectum to view the inside of the GI tract. A type of endoscopy called colonoscopy looks at the large intestine. NIH: National Institute of Diabetes and Digestive and Kidney Diseases.
Failure to thrive
MedGen UID:
115900
Concept ID:
C0231246
Finding
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Ascites
MedGen UID:
416
Concept ID:
C0003962
Finding
Accumulation of fluid in the peritoneal cavity.
Gastrointestinal hemorrhage
MedGen UID:
8971
Concept ID:
C0017181
Pathologic Function
Your digestive or gastrointestinal (GI) tract includes the esophagus, stomach, small intestine, large intestine or colon, rectum, and anus. Bleeding can come from any of these areas. The amount of bleeding can be so small that only a lab test can find it. . Signs of bleeding in the digestive tract depend where it is and how much bleeding there is. Signs of bleeding in the upper digestive tract include. -Bright red blood in vomit. -Vomit that looks like coffee grounds. -Black or tarry stool. -Dark blood mixed with stool. Signs of bleeding in the lower digestive tract include. -Black or tarry stool. -Dark blood mixed with stool. -Stool mixed or coated with bright red blood. GI bleeding is not a disease, but a symptom of a disease. There are many possible causes of GI bleeding, including hemorrhoids, peptic ulcers, tears or inflammation in the esophagus, diverticulosis and diverticulitis, ulcerative colitis and Crohn's disease, colonic polyps, or cancer in the colon, stomach or esophagus. The test used most often to look for the cause of GI bleeding is called endoscopy. It uses a flexible instrument inserted through the mouth or rectum to view the inside of the GI tract. A type of endoscopy called colonoscopy looks at the large intestine. NIH: National Institute of Diabetes and Digestive and Kidney Diseases.
Hepatomegaly
MedGen UID:
42428
Concept ID:
C0019209
Finding
Enlargement of the liver.
Liver Cirrhosis
MedGen UID:
7368
Concept ID:
C0023890
Disease or Syndrome
Cirrhosis is scarring of the liver. Scar tissue forms because of injury or long-term disease. Scar tissue cannot do what healthy liver tissue does - make protein, help fight infections, clean the blood, help digest food and store energy. Cirrhosis can lead to . -Easy bruising or bleeding, or nosebleeds. -Swelling of the abdomen or legs . -Extra sensitivity to medicines. -High blood pressure in the vein entering the liver. -Enlarged veins called varices in the esophagus and stomach. Varices can bleed suddenly. - Kidney failure. -Jaundice. -Severe itching. -Gallstones. A small number of people with cirrhosis get liver cancer. Your doctor will diagnose cirrhosis with blood tests, imaging tests, or a biopsy. Cirrhosis has many causes. In the United States, the most common causes are chronic alcoholism and hepatitis. Nothing will make the scar tissue disappear, but treating the cause can keep it from getting worse. If too much scar tissue forms, you may need to consider a liver transplant. . NIH: National Institute of Diabetes and Digestive and Kidney Diseases.
Paralytic ileus
MedGen UID:
18293
Concept ID:
C0030446
Disease or Syndrome
An ileus caused by abdominal or pelvic surgery, infections, disorders that affect the muscles and nerves, and medications. Signs and symptoms include those of intestinal obstruction.
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Enlargement of the spleen.
Liver Failure, Acute
MedGen UID:
58125
Concept ID:
C0162557
Disease or Syndrome
A form of rapid-onset LIVER FAILURE, also known as fulminant hepatic failure, caused by severe liver injury or massive loss of HEPATOCYTES. It is characterized by sudden development of liver dysfunction and JAUNDICE. Acute liver failure may progress to exhibit cerebral dysfunction even HEPATIC COMA depending on the etiology that includes hepatic ISCHEMIA, drug toxicity, malignant infiltration, and viral hepatitis such as post-transfusion HEPATITIS B and HEPATITIS C.
Pancreatic islet-cell hyperplasia
MedGen UID:
108598
Concept ID:
C0597167
Finding
Hyperplasia of the islets of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells.
Elevated hepatic transaminases
MedGen UID:
338525
Concept ID:
C1848701
Finding
Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.
Increased incidence of hepatocellular carcinoma
MedGen UID:
358104
Concept ID:
C1867955
Finding
A kind of neoplasm of the liver that originates in hepatocytes and presents macroscopically as a soft and hemorrhagic tan mass in the liver.
Abnormality of the abdominal wall
MedGen UID:
867301
Concept ID:
C4021664
Anatomical Abnormality
The presence of any abnormality affecting the abdominal wall.
Periodic paralysis
MedGen UID:
488958
Concept ID:
C1279412
Disease or Syndrome
Episodes of muscle weakness.
Episodic peripheral neuropathy
MedGen UID:
338523
Concept ID:
C1848695
Finding
Gastrointestinal hemorrhage
MedGen UID:
8971
Concept ID:
C0017181
Pathologic Function
Your digestive or gastrointestinal (GI) tract includes the esophagus, stomach, small intestine, large intestine or colon, rectum, and anus. Bleeding can come from any of these areas. The amount of bleeding can be so small that only a lab test can find it. . Signs of bleeding in the digestive tract depend where it is and how much bleeding there is. Signs of bleeding in the upper digestive tract include. -Bright red blood in vomit. -Vomit that looks like coffee grounds. -Black or tarry stool. -Dark blood mixed with stool. Signs of bleeding in the lower digestive tract include. -Black or tarry stool. -Dark blood mixed with stool. -Stool mixed or coated with bright red blood. GI bleeding is not a disease, but a symptom of a disease. There are many possible causes of GI bleeding, including hemorrhoids, peptic ulcers, tears or inflammation in the esophagus, diverticulosis and diverticulitis, ulcerative colitis and Crohn's disease, colonic polyps, or cancer in the colon, stomach or esophagus. The test used most often to look for the cause of GI bleeding is called endoscopy. It uses a flexible instrument inserted through the mouth or rectum to view the inside of the GI tract. A type of endoscopy called colonoscopy looks at the large intestine. NIH: National Institute of Diabetes and Digestive and Kidney Diseases.
Abnormal bleeding
MedGen UID:
264316
Concept ID:
C1458140
Pathologic Function
Normally, if you get hurt, your body forms a blood clot to stop the bleeding. For blood to clot, your body needs cells called platelets and proteins known as clotting factors. If you have a bleeding disorder, you either do not have enough platelets or clotting factors or they don't work the way they should. . Bleeding disorders can be the result of other diseases, such as severe liver disease. They can also be inherited. Hemophilia is an inherited bleeding disorder. Bleeding disorders can also be a side effect of medicines.
Abnormality of coagulation
MedGen UID:
375979
Concept ID:
C1846821
Finding
An abnormality of the process of blood coagulation. That is, altered ability or inability of the blood to clot.
Nephrocalcinosis
MedGen UID:
10222
Concept ID:
C0027709
Disease or Syndrome
A condition characterized by calcification of the renal tissue itself. It is usually seen in distal RENAL TUBULAR ACIDOSIS with calcium deposition in the DISTAL KIDNEY TUBULES and the surrounding interstitium. Nephrocalcinosis causes RENAL INSUFFICIENCY.
Glomerulosclerosis
MedGen UID:
61248
Concept ID:
C0178664
Disease or Syndrome
Accumulation of scar tissue within the glomerulus.
Fanconi renotubular syndrome 1
MedGen UID:
137960
Concept ID:
C0341703
Disease or Syndrome
Fanconi renotubular syndrome is a consequence of decreased solute and water reabsorption in the proximal tubule of the kidney. Patients have polydipsia and polyuria with phosphaturia, glycosuria, and aminoaciduria. They may develop hypophosphatemic rickets or osteomalacia, acidosis, and a tendency toward dehydration. Some will eventually develop renal insufficiency. Common laboratory abnormalities include glucosuria with a normal serum glucose, hyperaminoaciduria, hypophosphatemia, progressive renal insufficiency, renal sodium and potassium wasting, acidosis, uricosuria, and low-molecular-weight proteinuria (summary by Lichter-Konecki et al., 2001). Genetic Heterogeneity of Fanconi Renotubular Syndrome Fanconi renotubular syndrome-1 has been mapped to chromosome 15q15.3. See also FRTS2 (613388), caused by mutation in the SLC34A1 gene (182309) on chromosome 5q35; FRTS3 (615605), caused by mutation in the EHHADH gene (607037) on chromosome 3q27; and FRTS4 (616026), which is associated with maturity-onset diabetes of the young (MODY), caused by mutation in the HNF4A gene (600281) on chromosome 20q13.
Enlarged kidney
MedGen UID:
108156
Concept ID:
C0542518
Finding
An abnormal increase in the size of the kidney.
Renal insufficiency
MedGen UID:
332529
Concept ID:
C1565489
Disease or Syndrome
A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Enlargement of the spleen.
Hypoglycemia
MedGen UID:
6979
Concept ID:
C0020615
Disease or Syndrome
Hypoglycemia means low blood glucose, or blood sugar. Your body needs glucose to have enough energy. After you eat, your blood absorbs glucose. If you eat more sugar than your body needs, your muscles, and liver store the extra. When your blood sugar begins to fall, a hormone tells your liver to release glucose. In most people, this raises blood sugar. If it doesn't, you have hypoglycemia, and your blood sugar can be dangerously low. Signs include . -Hunger. -Shakiness. -Dizziness. -Confusion. -Difficulty speaking. -Feeling anxious or weak. In people with diabetes, hypoglycemia is often a side effect of diabetes medicines. Eating or drinking something with carbohydrates can help. If it happens often, your health care provider may need to change your treatment plan. You can also have low blood sugar without having diabetes. Causes include certain medicines or diseases, hormone or enzyme deficiencies, and tumors. Laboratory tests can help find the cause. The kind of treatment depends on why you have low blood sugar. NIH: National Institute of Diabetes and Digestive and Kidney Diseases.
Hepatic methionine adenosyltransferase deficiency
MedGen UID:
75700
Concept ID:
C0268621
Disease or Syndrome
Methionine adenosyltransferase deficiency is an inborn error of metabolism resulting in isolated hypermethioninemia. Most patients have no clinical abnormalities, although some with the autosomal recessive form have have neurologic abnormalities (Mudd et al., 2003; Kim et al., 2016).
Elevated alpha-fetoprotein
MedGen UID:
892411
Concept ID:
C0476489
Finding
An increased concentration of alpha-fetoprotein.
Hypophosphatemic rickets
MedGen UID:
309957
Concept ID:
C1704375
Disease or Syndrome
A disorder characterized by HYPOPHOSPHATEMIA; RICKETS; OSTEOMALACIA; resulting from lack of phosphate reabsorption by the kidneys and possible defects in vitamin D metabolism.
Elevated urinary delta-aminolevulinic acid
MedGen UID:
341286
Concept ID:
C1848702
Finding
An increased concentration of 5-aminolevulinic acid (CHEBI:17549) in the urine.
Hypertyrosinemia
MedGen UID:
742296
Concept ID:
C1879362
Disease or Syndrome
An increased concentration of tyrosine in the blood.
Hypophosphatemic rickets
MedGen UID:
309957
Concept ID:
C1704375
Disease or Syndrome
A disorder characterized by HYPOPHOSPHATEMIA; RICKETS; OSTEOMALACIA; resulting from lack of phosphate reabsorption by the kidneys and possible defects in vitamin D metabolism.
Pancreatic islet-cell hyperplasia
MedGen UID:
108598
Concept ID:
C0597167
Finding
Hyperplasia of the islets of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells.

Recent clinical studies

Etiology

Fernández-Lainez C, Ibarra-González I, Belmont-Martínez L, Monroy-Santoyo S, Guillén-López S, Vela-Amieva M
Ann Hepatol 2014 Mar-Apr;13(2):265-72. PMID: 24552869
Bendadi F, de Koning TJ, Visser G, Prinsen HC, de Sain MG, Verhoeven-Duif N, Sinnema G, van Spronsen FJ, van Hasselt PM
J Pediatr 2014 Feb;164(2):398-401. Epub 2013 Nov 14 doi: 10.1016/j.jpeds.2013.10.001. PMID: 24238861
la Marca G, Malvagia S, Materazzi S, Della Bona ML, Boenzi S, Martinelli D, Dionisi-Vici C
Anal Chem 2012 Jan 17;84(2):1184-8. Epub 2011 Dec 29 doi: 10.1021/ac202695h. PMID: 22148291
Jitraruch S, Treepongkaruna S, Teeraratkul S, Wattanasirichaigoon D, Leelaudomlipi S, Sornmayura P, Viengteerawat S, Sriphojanart S
J Med Assoc Thai 2011 Oct;94(10):1276-80. PMID: 22145516
Koelink CJ, van Hasselt P, van der Ploeg A, van den Heuvel-Eibrink MM, Wijburg FA, Bijleveld CM, van Spronsen FJ
Mol Genet Metab 2006 Dec;89(4):310-5. Epub 2006 Sep 27 doi: 10.1016/j.ymgme.2006.07.009. PMID: 17008115

Diagnosis

Shah I, Shah F
Indian J Gastroenterol 2016 May;35(3):229-31. Epub 2016 Apr 25 doi: 10.1007/s12664-016-0650-3. PMID: 27109516
Dou B, Yang C, Chai Y, Yuan R, Xiang Y
Analyst 2015 Sep 7;140(17):5981-6. doi: 10.1039/c5an01006c. PMID: 26181647
De Jesús VR, Adam BW, Mandel D, Cuthbert CD, Matern D
Mol Genet Metab 2014 Sep-Oct;113(1-2):67-75. Epub 2014 Jul 17 doi: 10.1016/j.ymgme.2014.07.010. PMID: 25066104Free PMC Article
Mak CM, Lam CW, Chim S, Siu TS, Ng KF, Tam S
Clin Biochem 2013 Jan;46(1-2):155-9. Epub 2012 Sep 18 doi: 10.1016/j.clinbiochem.2012.09.010. PMID: 23000314
Cansever MS, Aktuğlu-Zeybek AC, Erim FB
Talanta 2010 Mar 15;80(5):1846-8. Epub 2009 Oct 24 doi: 10.1016/j.talanta.2009.10.032. PMID: 20152421

Therapy

Shah I, Shah F
Indian J Gastroenterol 2016 May;35(3):229-31. Epub 2016 Apr 25 doi: 10.1007/s12664-016-0650-3. PMID: 27109516
Kassel R, Sprietsma L, Rudnick DA
J Pediatr Gastroenterol Nutr 2015 Jan;60(1):e5-7. doi: 10.1097/MPG.0b013e3182a27463. PMID: 23838819
Fernández-Lainez C, Ibarra-González I, Belmont-Martínez L, Monroy-Santoyo S, Guillén-López S, Vela-Amieva M
Ann Hepatol 2014 Mar-Apr;13(2):265-72. PMID: 24552869
Bendadi F, de Koning TJ, Visser G, Prinsen HC, de Sain MG, Verhoeven-Duif N, Sinnema G, van Spronsen FJ, van Hasselt PM
J Pediatr 2014 Feb;164(2):398-401. Epub 2013 Nov 14 doi: 10.1016/j.jpeds.2013.10.001. PMID: 24238861
Schauwvlieghe PP, Jaeken J, Kestelyn P, Claerhout I
Cornea 2013 Jan;32(1):91-4. doi: 10.1097/ICO.0b013e318243e474. PMID: 22495034

Prognosis

Fernández-Lainez C, Ibarra-González I, Belmont-Martínez L, Monroy-Santoyo S, Guillén-López S, Vela-Amieva M
Ann Hepatol 2014 Mar-Apr;13(2):265-72. PMID: 24552869
Bendadi F, de Koning TJ, Visser G, Prinsen HC, de Sain MG, Verhoeven-Duif N, Sinnema G, van Spronsen FJ, van Hasselt PM
J Pediatr 2014 Feb;164(2):398-401. Epub 2013 Nov 14 doi: 10.1016/j.jpeds.2013.10.001. PMID: 24238861
Karatas OF, Guzel E, Karaca E, Sevli S, Soyucen E, Yuksel A, Ozen M
Mol Biol Rep 2013 Jul;40(7):4619-23. Epub 2013 May 7 doi: 10.1007/s11033-013-2555-x. PMID: 23649765
Cao YY, Zhang YL, DU J, Qu YJ, Zhong XM, Bai JL, Song F
Chin Med J (Engl) 2012 Jun;125(12):2132-6. PMID: 22884142
Koelink CJ, van Hasselt P, van der Ploeg A, van den Heuvel-Eibrink MM, Wijburg FA, Bijleveld CM, van Spronsen FJ
Mol Genet Metab 2006 Dec;89(4):310-5. Epub 2006 Sep 27 doi: 10.1016/j.ymgme.2006.07.009. PMID: 17008115

Clinical prediction guides

Fernández-Lainez C, Ibarra-González I, Belmont-Martínez L, Monroy-Santoyo S, Guillén-López S, Vela-Amieva M
Ann Hepatol 2014 Mar-Apr;13(2):265-72. PMID: 24552869
Bendadi F, de Koning TJ, Visser G, Prinsen HC, de Sain MG, Verhoeven-Duif N, Sinnema G, van Spronsen FJ, van Hasselt PM
J Pediatr 2014 Feb;164(2):398-401. Epub 2013 Nov 14 doi: 10.1016/j.jpeds.2013.10.001. PMID: 24238861
Pérez-Carro R, Sánchez-Alcudia R, Pérez B, Navarrete R, Pérez-Cerdá C, Ugarte M, Desviat LR
Clin Genet 2014 Aug;86(2):167-71. Epub 2013 Aug 21 doi: 10.1111/cge.12243. PMID: 23895425
Karatas OF, Guzel E, Karaca E, Sevli S, Soyucen E, Yuksel A, Ozen M
Mol Biol Rep 2013 Jul;40(7):4619-23. Epub 2013 May 7 doi: 10.1007/s11033-013-2555-x. PMID: 23649765
Koelink CJ, van Hasselt P, van der Ploeg A, van den Heuvel-Eibrink MM, Wijburg FA, Bijleveld CM, van Spronsen FJ
Mol Genet Metab 2006 Dec;89(4):310-5. Epub 2006 Sep 27 doi: 10.1016/j.ymgme.2006.07.009. PMID: 17008115

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