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Prolidase deficiency

MedGen UID:
120647
Concept ID:
C0268532
Disease or Syndrome
Synonyms: Deficiencies, Imidodipeptidase; Deficiencies, Prolidase; Deficiency, Imidodipeptidase; Deficiency, Prolidase; Hyperimidodipeptiduria; Hyperimidodipeptidurias; Imidodipeptidase Deficiencies; Imidodipeptidase Deficiency; Prolidase Deficiencies; Prolidase Deficiency
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, 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).
SNOMED CT: Hyperimidodipeptiduria (410055005); Hyperimidodipeptiduria due to proline dipeptidase deficiency (410055005); Iminodipeptiduria (410055005); Deficiency of imidodipeptidase (360969006); Deficiency of prolidase (360994007); Deficiency of proline dipeptidase (361010007)
 
Gene (location): PEPD (19q13.11)
OMIM®: 170100

Definition

Prolidase deficiency is characterized by skin lesions (typically severe, chronic, recalcitrant, and painful skin ulcers of the lower extremities and telangiectasias of the face and hands), recurrent infections (particularly of the skin and respiratory tract), dysmorphic facial features, variable intellectual disability, and hepatomegaly with elevated liver enzymes and splenomegaly. Anemia, thrombocytopenia, hypergammaglobulinemia, and hypocomplementemia are common. An association between systemic lupus erythematosus (SLE) and prolidase deficiency has been described. [from NCBI]

Additional descriptions

From NCBI curation
Prolidase deficiency is characterized by skin lesions (typically severe, chronic, recalcitrant, and painful skin ulcers of the lower extremities and telangiectasias of the face and hands), recurrent infections (particularly of the skin and respiratory tract), dysmorphic facial features, variable intellectual disability, and hepatomegaly with elevated liver enzymes and splenomegaly. Anemia, thrombocytopenia, hypergammaglobulinemia, and hypocomplementemia are common. An association between systemic lupus erythematosus (SLE) and prolidase deficiency has been described.
From OMIM
Prolidase deficiency is a rare autosomal recessive multisystem disorder associated with massive imidodipeptiduria and lack of or reduced prolidase activity in erythrocytes, leukocytes, or cultured fibroblasts. The disorder is clinically heterogeneous and severity varies widely. Features include chronic, slowly healing ulcerations, mainly on the legs and feet. The ulcers are often preceded by other dermatologic manifestations that may occur anywhere and include erythematous papular eruptions, telangiectasias with pruritus and photosensitivity, impetigo-like eruptions, pruritic eczematous lesions, and necrotic papules. Mild to severe mental retardation is often a feature, and recurrent respiratory tract infections, sometimes fatal, are common. Facial dysmorphism may include low hairline and hirsutism, saddle nose, ocular hypertelorism, micrognathia, a high-arched palate, mandibular protrusion, and exophthalmos. Clinical manifestations are usually detectable after birth or in early childhood, but late-onset cases have been reported (summary by Lupi et al., 2008).  http://www.omim.org/entry/170100
From GHR
Prolidase deficiency is a disorder that causes a wide variety of symptoms. The disorder typically becomes apparent during infancy. Affected individuals may have enlargement of the spleen (splenomegaly); in some cases, both the spleen and liver are enlarged (hepatosplenomegaly). Diarrhea, vomiting, and dehydration may also occur. People with prolidase deficiency are susceptible to severe infections of the skin or ears, or potentially life-threatening respiratory tract infections. Some individuals with prolidase deficiency have chronic lung disease.Characteristic facial features in people with prolidase deficiency include prominent eyes that are widely spaced (hypertelorism), a high forehead, a flat bridge of the nose, and a very small lower jaw and chin (micrognathia). Affected children may experience delayed development, and about 75 percent of people with prolidase deficiency have intellectual disability that may range from mild to severe.People with prolidase deficiency often develop skin lesions, especially on their hands, feet, lower legs, and face. The severity of the skin involvement, which usually begins during childhood, may range from a mild rash to severe skin ulcers. Skin ulcers, especially on the legs, may not heal completely, resulting in complications including infection and amputation.The severity of symptoms in prolidase deficiency varies greatly among affected individuals. Some people with this disorder do not have any symptoms. In these individuals the condition can be detected by laboratory tests such as newborn screening tests or tests offered to relatives of affected individuals.  https://ghr.nlm.nih.gov/condition/prolidase-deficiency

Clinical features

Petechiae
MedGen UID:
10680
Concept ID:
C0031256
Disease or Syndrome
A group of small reddish or purplish spots in skin or mucous membrane as a result of localized hemorrhage.
Diffuse telangiectasis
MedGen UID:
224748
Concept ID:
C1265776
Finding
Telangiectases (small dilated blood vessels) with a diffuse localization.
Ptosis of eyelid
MedGen UID:
2287
Concept ID:
C0005745
Anatomical Abnormality
The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
Exophthalmos
MedGen UID:
41917
Concept ID:
C0015300
Disease or Syndrome
An eye that is protruding anterior to the plane of the face to a greater extent than is typical.
Hypertelorism
MedGen UID:
9373
Concept ID:
C0020534
Congenital Abnormality
Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (145410), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).
Visual impairment
MedGen UID:
22663
Concept ID:
C0042798
Finding
Vision considered to be inferior to normal vision as represented by accepted standards of acuity, field of vision, or motility. Low vision generally refers to visual disorders that are caused by diseases that cannot be corrected by refraction (e.g., MACULAR DEGENERATION; RETINITIS PIGMENTOSA; DIABETIC RETINOPATHY, etc.).
Abnormality of retinal pigmentation
MedGen UID:
350681
Concept ID:
C1862475
Finding
Anemia
MedGen UID:
1526
Concept ID:
C0002871
Disease or Syndrome
If you have anemia, your blood does not carry enough oxygen to the rest of your body. The most common cause of anemia is not having enough iron. Your body needs iron to make hemoglobin. Hemoglobin is an iron-rich protein that gives the red color to blood. It carries oxygen from the lungs to the rest of the body. Anemia has three main causes: blood loss, lack of red blood cell production, and high rates of red blood cell destruction. Conditions that may lead to anemia include. -Heavy periods. -Pregnancy. -Ulcers. -Colon polyps or colon cancer. -Inherited disorders. -A diet that does not have enough iron, folic acid or vitamin B12. -Blood disorders such as sickle cell anemia and thalassemia, or cancer. -Aplastic anemia, a condition that can be inherited or acquired. -G6PD deficiency, a metabolic disorder. Anemia can make you feel tired, cold, dizzy, and irritable. You may be short of breath or have a headache. Your doctor will diagnose anemia with a physical exam and blood tests. Treatment depends on the kind of anemia you have. NIH: National Heart, Lung, and Blood Institute.
Petechiae
MedGen UID:
10680
Concept ID:
C0031256
Disease or Syndrome
A group of small reddish or purplish spots in skin or mucous membrane as a result of localized hemorrhage.
Thrombocytopenia
MedGen UID:
52737
Concept ID:
C0040034
Finding
A reduction in the number of circulating thrombocytes.
Urinary bladder inflammation
MedGen UID:
8227
Concept ID:
C0010692
Disease or Syndrome
Inflammation of the urinary bladder.
Arachnodactyly
MedGen UID:
2047
Concept ID:
C0003706
Congenital Abnormality
An abnormal bone development that is characterized by extra long and slender hands and fingers, such that the clenched thumb extends beyond the ulnar side of the hand. Arachnodactyly can include feet and toes. Arachnodactyly has been associated with several gene mutations and syndromes.
Single transverse palmar crease
MedGen UID:
96108
Concept ID:
C0424731
Finding
The distal and proximal transverse palmar creases are merged into a single transverse palmar crease.
Knee joint valgus deformity
MedGen UID:
154364
Concept ID:
C0576093
Anatomical Abnormality
The legs angle inward, such that the knees are close together and the ankles far apart.
Deafness
MedGen UID:
4155
Concept ID:
C0011053
Finding
A decreased magnitude of the sensory perception of sound.
Abnormality of the middle ear
MedGen UID:
348799
Concept ID:
C1861141
Finding
An abnormality of the middle ear.
Cognitive impairment
MedGen UID:
90932
Concept ID:
C0338656
Mental or Behavioral Dysfunction
a condition where a person has problems with the ability to think and learn
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Asthma
MedGen UID:
2109
Concept ID:
C0004096
Disease or Syndrome
Asthma is a chronic disease that affects your airways. Your airways are tubes that carry air in and out of your lungs. If you have asthma, the inside walls of your airways become sore and swollen. That makes them very sensitive, and they may react strongly to things that you are allergic to or find irritating. When your airways react, they get narrower and your lungs get less air. Symptoms of asthma include. -Wheezing. -Coughing, especially early in the morning or at night. -Chest tightness. -Shortness of breath. Not all people who have asthma have these symptoms. Having these symptoms doesn't always mean that you have asthma. Your doctor will diagnose asthma based on lung function tests, your medical history, and a physical exam. You may also have allergy tests. When your asthma symptoms become worse than usual, it's called an asthma attack. Severe asthma attacks may require emergency care, and they can be fatal. Asthma is treated with two kinds of medicines: quick-relief medicines to stop asthma symptoms and long-term control medicines to prevent symptoms. . NIH: National Heart, Lung, and Blood Institute.
Recurrent pneumonia
MedGen UID:
195802
Concept ID:
C0694550
Disease or Syndrome
An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia.
Chronic lung disease
MedGen UID:
196656
Concept ID:
C0746102
Disease or Syndrome
According to the definitions of the American and British Thoracic Societies, including pulmonary functional tests, X-rays, and CT scans for items such as fibrosis, bronchiectasis, bullae, emphysema, nodular or lymphomatous abnormalities.
Recurrent respiratory infections
MedGen UID:
812812
Concept ID:
C3806482
Finding
An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.
Hepatomegaly
MedGen UID:
42428
Concept ID:
C0019209
Sign or Symptom
Enlargement of the liver.
Neonatal jaundice
MedGen UID:
5923
Concept ID:
C0022353
Disease or Syndrome
Neonatal jaundice refers to a yellowing of the skin and other tissues of a newborn infant as a result of increased concentrations of bilirubin in the blood. Neonatal jaundice affects over half of all newborns to some extent in the first week of life. Prolonged neonatal jaundice is said to be present if the jaundice persists for longer than 14 days in term infants and 21 days in preterm infants.
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Enlargement of the spleen.
Asthma
MedGen UID:
2109
Concept ID:
C0004096
Disease or Syndrome
Asthma is a chronic disease that affects your airways. Your airways are tubes that carry air in and out of your lungs. If you have asthma, the inside walls of your airways become sore and swollen. That makes them very sensitive, and they may react strongly to things that you are allergic to or find irritating. When your airways react, they get narrower and your lungs get less air. Symptoms of asthma include. -Wheezing. -Coughing, especially early in the morning or at night. -Chest tightness. -Shortness of breath. Not all people who have asthma have these symptoms. Having these symptoms doesn't always mean that you have asthma. Your doctor will diagnose asthma based on lung function tests, your medical history, and a physical exam. You may also have allergy tests. When your asthma symptoms become worse than usual, it's called an asthma attack. Severe asthma attacks may require emergency care, and they can be fatal. Asthma is treated with two kinds of medicines: quick-relief medicines to stop asthma symptoms and long-term control medicines to prevent symptoms. . NIH: National Heart, Lung, and Blood Institute.
Urinary bladder inflammation
MedGen UID:
8227
Concept ID:
C0010692
Disease or Syndrome
Inflammation of the urinary bladder.
Systemic lupus erythematosus
MedGen UID:
6146
Concept ID:
C0024141
Disease or Syndrome
Systemic lupus erythematosus (SLE) is a complex autoimmune disease characterized by production of autoantibodies against nuclear, cytoplasmic, and cell surface molecules that transcend organ-specific boundaries. Tissue deposition of antibodies or immune complexes induces inflammation and subsequent injury of multiple organs and finally results in clinical manifestations of SLE, including glomerulonephritis, dermatitis, thrombosis, vasculitis, seizures, and arthritis. Evidence strongly suggests the involvement of genetic components in SLE susceptibility (summary by Oishi et al., 2008). Genetic Heterogeneity of Systemic Lupus Erythematosus An autosomal recessive form of systemic lupus erythematosus (SLEB16; 614420) is caused by mutation in the DNASE1L3 gene (602244) on chromosome 3p14.3. See MAPPING and MOLECULAR GENETICS sections for a discussion of genetic heterogeneity of susceptibility to SLE.
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Enlargement of the spleen.
Recurrent pneumonia
MedGen UID:
195802
Concept ID:
C0694550
Disease or Syndrome
An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia.
Crusting erythematous dermatitis
MedGen UID:
358224
Concept ID:
C1868496
Disease or Syndrome
Recurrent respiratory infections
MedGen UID:
812812
Concept ID:
C3806482
Finding
An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.
Abnormality of metabolism/homeostasis
MedGen UID:
867398
Concept ID:
C4021768
Finding
Arachnodactyly
MedGen UID:
2047
Concept ID:
C0003706
Congenital Abnormality
An abnormal bone development that is characterized by extra long and slender hands and fingers, such that the clenched thumb extends beyond the ulnar side of the hand. Arachnodactyly can include feet and toes. Arachnodactyly has been associated with several gene mutations and syndromes.
Congenital micrognathism
MedGen UID:
44428
Concept ID:
C0025990
Congenital Abnormality
Developmental hypoplasia of the mandible.
Knee joint valgus deformity
MedGen UID:
154364
Concept ID:
C0576093
Anatomical Abnormality
The legs angle inward, such that the knees are close together and the ankles far apart.
Malar flattening
MedGen UID:
347616
Concept ID:
C1858085
Anatomical Abnormality
Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.
Reduced bone mineral density
MedGen UID:
393152
Concept ID:
C2674432
Finding
A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones.
Cheekbone underdevelopment
MedGen UID:
866886
Concept ID:
C4021242
Anatomical Abnormality
Underdevelopment of the zygomatic bone [UBERON_0001683]. That is, a reduction in size of the zygomatic bone, including the zygomatic process of the temporal bone of the skull, which forms part of the zygomatic arch.
Abnormality of the hip bone
MedGen UID:
867370
Concept ID:
C4021735
Anatomical Abnormality
An abnormality of the hip bone.
Carious teeth
MedGen UID:
8288
Concept ID:
C0011334
Disease or Syndrome
You call it a cavity. Your dentist calls it tooth decay or dental caries. They're all names for a hole in your tooth. The cause of tooth decay is plaque, a sticky substance in your mouth made up mostly of germs. Tooth decay starts in the outer layer, called the enamel. Without a filling, the decay can get deep into the tooth and its nerves and cause a toothache or abscess. To help prevent cavities. -Brush your teeth every day with a fluoride toothpaste. -Clean between your teeth every day with floss or another type of between-the-teeth cleaner. -Snack smart - limit sugary snacks. -See your dentist or oral health professional regularly.
Exophthalmos
MedGen UID:
41917
Concept ID:
C0015300
Disease or Syndrome
An eye that is protruding anterior to the plane of the face to a greater extent than is typical.
Hypertelorism
MedGen UID:
9373
Concept ID:
C0020534
Congenital Abnormality
Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (145410), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).
Congenital micrognathism
MedGen UID:
44428
Concept ID:
C0025990
Congenital Abnormality
Developmental hypoplasia of the mandible.
Convex nasal ridge
MedGen UID:
66809
Concept ID:
C0240538
Finding
Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low.
Craniofacial Abnormalities
MedGen UID:
91281
Concept ID:
C0376634
Congenital Abnormality
Craniofacial is a medical term that relates to the bones of the skull and face. Craniofacial abnormalities are birth defects of the face or head. Some, like cleft lip and palate, are among the most common of all birth defects. Others are very rare. Most of them affect how a person's face or head looks. These conditions may also affect other parts of the body. Treatment depends on the type of problem. Plastic and reconstructive surgery may help the person's appearance.
Small nose
MedGen UID:
140868
Concept ID:
C0426414
Finding
Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip.
Depressed nasal bridge
MedGen UID:
373112
Concept ID:
C1836542
Finding
Posterior positioning of the nasal root in relation to the overall facial profile for age.
Prominent forehead
MedGen UID:
373291
Concept ID:
C1837260
Finding
Forward prominence of the entire forehead, due to protrusion of the frontal bone.
Low anterior hairline
MedGen UID:
331280
Concept ID:
C1842366
Finding
Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD below the mean. Alternatively, an apparently decreased distance between the hairline and the glabella.
Depressed nasal ridge
MedGen UID:
334631
Concept ID:
C1842876
Finding
Lack of prominence of the nose resulting from a posteriorly-placed nasal ridge.
Low posterior hairline
MedGen UID:
383755
Concept ID:
C1855728
Finding
Hair on the neck extends more inferiorly than usual.
Malar flattening
MedGen UID:
347616
Concept ID:
C1858085
Anatomical Abnormality
Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.
Cheekbone underdevelopment
MedGen UID:
866886
Concept ID:
C4021242
Anatomical Abnormality
Underdevelopment of the zygomatic bone [UBERON_0001683]. That is, a reduction in size of the zygomatic bone, including the zygomatic process of the temporal bone of the skull, which forms part of the zygomatic arch.
Hypertrichosis
MedGen UID:
43787
Concept ID:
C0020555
Disease or Syndrome
Hypertrichosis is increased hair growth that is abnormal in quantity or location.
Neonatal jaundice
MedGen UID:
5923
Concept ID:
C0022353
Disease or Syndrome
Neonatal jaundice refers to a yellowing of the skin and other tissues of a newborn infant as a result of increased concentrations of bilirubin in the blood. Neonatal jaundice affects over half of all newborns to some extent in the first week of life. Prolonged neonatal jaundice is said to be present if the jaundice persists for longer than 14 days in term infants and 21 days in preterm infants.
Hereditary palmoplantar keratoderma
MedGen UID:
44017
Concept ID:
C0022596
Disease or Syndrome
Hyperkeratosis affecting the palm of the hand and the sole of the foot.
Petechiae
MedGen UID:
10680
Concept ID:
C0031256
Disease or Syndrome
A group of small reddish or purplish spots in skin or mucous membrane as a result of localized hemorrhage.
Pruritus
MedGen UID:
19534
Concept ID:
C0033774
Sign or Symptom
Itching is skin tingling or irritation that makes you want to scratch the itchy area. It's a symptom of many health conditions. Common causes are . - Allergic reactions. - Eczema. - Dry skin. - Insect bites and stings. - Irritating chemicals. - Parasites such as pinworms, scabies, head and body lice. - Pregnancy. - Rashes. - Reactions to medicines. To soothe itchy skin, you can try cold compresses, lotions and lukewarm baths. Avoid scratching, wearing irritating fabrics and high heat and humidity. Most itching is not serious. However, if you itch all over, have hives that keep coming back or have itching without an apparent cause, you might require medical attention. .
Skin ulcer
MedGen UID:
52369
Concept ID:
C0037299
Disease or Syndrome
A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat.
Dry skin
MedGen UID:
56250
Concept ID:
C0151908
Sign or Symptom
Skin characterized by the lack of natural or normal moisture.
White forelock
MedGen UID:
91023
Concept ID:
C0344312
Disease or Syndrome
A triangular depigmented region of white hairs located in the anterior midline of the scalp.
Photosensitivity
MedGen UID:
87601
Concept ID:
C0349506
Pathologic Function
increased sensitivity of the skin to light and other sources of UV
Thin skin
MedGen UID:
140848
Concept ID:
C0423757
Finding
Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin.
Single transverse palmar crease
MedGen UID:
96108
Concept ID:
C0424731
Finding
The distal and proximal transverse palmar creases are merged into a single transverse palmar crease.
Diffuse telangiectasis
MedGen UID:
224748
Concept ID:
C1265776
Finding
Telangiectases (small dilated blood vessels) with a diffuse localization.
Low anterior hairline
MedGen UID:
331280
Concept ID:
C1842366
Finding
Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD below the mean. Alternatively, an apparently decreased distance between the hairline and the glabella.
Low posterior hairline
MedGen UID:
383755
Concept ID:
C1855728
Finding
Hair on the neck extends more inferiorly than usual.
Crusting erythematous dermatitis
MedGen UID:
358224
Concept ID:
C1868496
Disease or Syndrome
Abnormality of the fingernails
MedGen UID:
867411
Concept ID:
C4021782
Anatomical Abnormality
An abnormality of the fingernails.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVProlidase deficiency

Recent clinical studies

Etiology

Besio R, Maruelli S, Gioia R, Villa I, Grabowski P, Gallagher O, Bishop NJ, Foster S, De Lorenzi E, Colombo R, Diaz JL, Moore-Barton H, Deshpande C, Aydin HI, Tokatli A, Kwiek B, Kasapkara CS, Adisen EO, Gurer MA, Di Rocco M, Phang JM, Gunn TM, Tenni R, Rossi A, Forlino A
Bone 2015 Mar;72:53-64. Epub 2014 Nov 20 doi: 10.1016/j.bone.2014.11.009. [Epub ahead of print] PMID: 25460580
Pandit RA, Chen CJ, Butt TA, Islam N
Gene 2013 Mar 10;516(2):316-9. Epub 2012 Dec 31 doi: 10.1016/j.gene.2012.12.070. [Epub ahead of print] PMID: 23287645
Falik-Zaccai TC, Khayat M, Luder A, Frenkel P, Magen D, Brik R, Gershoni-Baruch R, Mandel H
Am J Med Genet B Neuropsychiatr Genet 2010 Jan 5;153B(1):46-56. doi: 10.1002/ajmg.b.30945. PMID: 19308961
Wang H, Kurien BT, Lundgren D, Patel NC, Kaufman KM, Miller DL, Porter AC, D'Souza A, Nye L, Tumbush J, Hupertz V, Kerr DS, Kurono S, Matsumoto H, Scofield RH
Am J Med Genet A 2006 Mar 15;140(6):580-5. doi: 10.1002/ajmg.a.31134. PMID: 16470701
Shrinath M, Walter JH, Haeney M, Couriel JM, Lewis MA, Herrick AL
Arch Dis Child 1997 May;76(5):441-4. PMID: 9196362Free PMC Article

Diagnosis

Kuloglu Z, Kansu A, Serwas N, Demir A, Yaman A, Ensari A, Boztug K
Genet Couns 2015;26(2):205-11. PMID: 26349190
Solak B, Kara RO, Erdem T, Muftuoglu T
Int J Low Extrem Wounds 2015 Mar;14(1):92-4. Epub 2015 Feb 17 doi: 10.1177/1534734615570360. [Epub ahead of print] PMID: 25691319
Lacarbonara M, Cazzolla AP, Lacarbonara VA, Di Venere D, Capogreco M, Marzo G
Eur J Paediatr Dent 2014 Jul;15(2 Suppl):224-8. PMID: 25101509
Dunn R, Varigos G, Winship I
Clin Dysmorphol 2011 Oct;20(4):194-9. doi: 10.1097/MCD.0b013e3283486cbd. PMID: 21760498
Besio R, Monzani E, Gioia R, Nicolis S, Rossi A, Casella L, Forlino A
Clin Chim Acta 2011 Sep 18;412(19-20):1814-20. Epub 2011 Jun 15 doi: 10.1016/j.cca.2011.06.011. [Epub ahead of print] PMID: 21699887

Therapy

Dunn R, Dolianitis C
Australas J Dermatol 2008 Nov;49(4):237-8. doi: 10.1111/j.1440-0960.2008.00485.x. PMID: 18855790
Lupi A, Tenni R, Rossi A, Cetta G, Forlino A
Amino Acids 2008 Nov;35(4):739-52. Epub 2008 Mar 14 doi: 10.1007/s00726-008-0055-4. [Epub ahead of print] PMID: 18340504
Zhang J, Sugahara K, Yasuda K, Kodama H, Sagara Y, Kodama H
Free Radic Biol Med 1998 Mar 15;24(5):689-98. PMID: 9586797
Jemec GB, Moe AT
Pediatr Dermatol 1996 Jan-Feb;13(1):58-60. PMID: 8919529
Powell GF, Maniscalco RM
Metabolism 1976 May;25(5):503-8. PMID: 772363

Prognosis

Besio R, Gioia R, Cossu F, Monzani E, Nicolis S, Cucca L, Profumo A, Casella L, Tenni R, Bolognesi M, Rossi A, Forlino A
PLoS One 2013;8(3):e58792. Epub 2013 Mar 13 doi: 10.1371/journal.pone.0058792. PMID: 23516557Free PMC Article
Klar A, Navon-Elkan P, Rubinow A, Branski D, Hurvitz H, Christensen E, Khayat M, Falik-Zaccai TC
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