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Neonatal transient pseudohypoparathyroidism: could it be included among inactivating parathyroid hormone (PTH)/PTH-related protein signalling disorders?

De Rose DU, Perri A, Gallini F, Priolo F, Tiberi E, Vento G, Zecca E

We report a case of transient pseudohypoparathyroidism in a full-term newborn that presented at 20 hours of life with hypocalcemic seizures, hyperphosphatemia and raised parathormone levels. The diagnosis of pseudohypoparathyroidism...
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Pseudohypoparathyroidism type 1b due to paternal uniparental disomy of chromosome 20q: A case report

Lee JH, Kim HS, Kim GH, Yoo HW

Pseudohypoparathyroidism type 1b (PHP 1b) is the result of end organ resistance to parathyroid hormone (PTH) in the absence of any features of Albright's hereditary osteodystrophy. There are two subtypes...
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A Case of Pseudohypoparathyroidism Type Ib Caused by Aberrant Methylation in the GNAS Complex Locus

Jo SJ, Han E, Jang W, Chae H, Kim Y, Lee GD, Cho WK, Suh BK, Kim M

Pseudohypoparathyroidism (PHP) is a rare disorder caused by genetic and epigenetic aberrations in the GNAS complex locus resulting in impaired expression of stimulatory G protein (Gsα). PHP type Ib (PHP-Ib)...
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A Case of GNAS1 Mutation in Pseudohypoparathyroidism Type Ia

Park G, Kim JH, Rhie SH, Lee ES, Noh SE

Pseudohypoparathyroidism (PHP) is a group of genetic disorders in which the kidneys fail to respond to parathyroid hormone. Genetic defects in the GNAS complex locus lead to reduced Gsalpha (alpha-subunit...
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Identification of a novel mutation in a patient with pseudohypoparathyroidism type Ia

Lee YS, Kim HK, Kim HR, Lee JY, Choi JW, Bae EJ, Oh PS, Park WI, Ki CS, Lee HJ

Pseudohypoparathyroidism type Ia (PHP Ia) is a disorder characterized by multiform hormonal resistance including parathyroid hormone (PTH) resistance and Albright hereditary osteodystrophy (AHO). It is caused by heterozygous inactivating mutations...
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Epileptic Seizure Revealing a Fahr's Syndrome with Pseudohypoparathyroidism: A Case Report

Oh SK, Lee JW, Yoo BD, Jun DH, Lee DH

Fahr's disease is a rare disease characterized by idiopathic abnormal deposits of calcium in intracranial areas. Fahr's syndrome occurs secondarily to other diseases. Endocrine disorders, particularly parathyroid hormone disorders, are...
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Subclinical Pseudohypoparathyroidism with Recurrent Seizure in Postpartal Period

Choi YJ, Choi KH, Lee KR, Choi SM, Lee SH, Park MS, Kim BC, Kim MK, Cho KH

  • KMID: 2343260
  • J Korean Neurol Assoc.
  • 2007 Aug;25(3):383-385.
Pseudohypoparathyroidism (PHP) is a disorder characterized by clinical and laboratorial findings of hypoparathyroidism with high plasma parathyroid hormone levels due to resistance by target tissues. Neurologic complications of PHP are...
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A Case of Pseudohypoparathyroidism Type I

Kim YS, Lee SH, Byun DI, Lee WK, Kim BH, Kim YH, Ko YS

Pseudohypoparathyroidism (PHP) is a rare clinical type of hypoparathyroidism. The patients with PHP show classic clinical and biochemical features of hypoparathyroidism, but elevated serum level of parathyroid hormone (PTH) and...
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A Case of Pseudopseudohypoparathyroidism with Partial Empty Sella

Koh JH, Lee Y, Choi JW, Hong TW, Kim MJ, Shin YG, Chung CH

  • KMID: 2200532
  • J Korean Soc Endocrinol.
  • 2004 Aug;19(4):433-438.
Pseudohypoparathyroidism (PHP) is a rare endocrine syndrome, which is characterized by Albright's hereditary osteodystrophy (AHO). Pseudopseudohypoparathyroidism (PPHP) presents with AHO features, but does not show clinical symptoms or the same...
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A Case of Pseudohypoparathyroidism in a Premature Infant

Yang JI, Seo JW, Kim JY

  • KMID: 2206978
  • J Korean Pediatr Soc.
  • 2003 Oct;46(10):1032-1035.
In pseudohypoparathyroidism as reported by Albright in 1942, the parathyroid gland can normally synthesize and secrete parathyroid hormone(PTH). Pseudohypoparathyroidism has a similar biochemical finding with hypoparathyroidisms like hypocalcemia and hyperphosphatemia...
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Clinical Characteristics Study of Pseudohypoparathyroidism

Choi IJ, Lim JS, Shin CH, Yang SW

  • KMID: 2193627
  • J Korean Soc Pediatr Endocrinol.
  • 2002 Jun;7(1):105-111.
PURPOSE: Pseudohypoparathyroidism(PHP) is caused by a defect of G protein and receptor despite of normal parathyroid hormone(PTH) secretion. It is a rare disorder characterized by hypocalcemia, hyperphophatemia, elevated PTH levels...
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A Case of Cutaneous Ossification occurring in Pseudohypoparathyroidism

Ahn H, Kim KS, Kim IH, Song HJ, Cheon HW, Lee JW, Oh CH

In Albright's hereditary osteodystrophy (AHO) including the syndromes of pseudohypoparathyroidism (PHP) and pseudopseudohypoparathyroidism (PPHP), multiple areas of intracutaneous ossification are often encountered. The characteristic features are short stature, round face,...
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Two Cases of Pseudohypoparathyroidism

Hong DE, Lee YK, Kim DU, Jeong DC, Hur JK, Oh CK, Lee IJ, Lee BC

  • KMID: 2193878
  • J Korean Soc Pediatr Endocrinol.
  • 1998 Nov;3(2):219-227.
Pseudohypoparathyroidism(PHP) is a genetic disorder characterized by target cell resistance to the effect of parathyroid hormone(PTH). The disorder is classified into type I a, I b, I...
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Two Cases of Pseudohypoparathyroidism in Sibling

You SY, Lee SY, Shin JH

  • KMID: 1529892
  • J Korean Soc Pediatr Endocrinol.
  • 1997 Sep;2(2):255-262.
Pseudohypoparathyroidism(PHP) is an inherited metabolic disorder characterized by hypocalcemia, hyperphosphatemia and an impaired phosphaturic response to exogenous parathormone(PTH), which are caused by end organ resistance to the action of PTH....
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A Case of Pseudohypoparathyroidism Type II 1

Kim EY, Kim DK, Lee HJ, Jung EK, Park YB

  • KMID: 2208212
  • J Korean Pediatr Soc.
  • 1996 Sep;39(9):1326-1330.
Pseudohypoparathyroidism is characterized by target cell resistance to the effects of parathyroid hormone and classified into various types depending on the phenotypic and biochemical findings. Pseudohypoparathyroidism type II differs from...
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A Case of Cutaneous Ossification in Pseudohypoparathyroidism

Na GY, Kim YH, Min PK, Hwang SJ

  • KMID: 1891522
  • Korean J Dermatol.
  • 1996 Oct;34(5):842-846.
A 6-month-old female infant pre~sented with multiple, slightly depressed pea-sized erythematous macules on. the abdomen and the chest since birth, which together with obese, short stature, short neck, and round...
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Pseudohypoparathyroidism: 2 cases report

Kang JD, Kim KY, Park JB, Park JH

  • KMID: 1947459
  • J Korean Orthop Assoc.
  • 1993 Jun;28(3):1320-1324.
No abstract available.
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Two cases of pseudohypoparathyroidism in sibling

Kwon SW, Lee HJ, Choi SY, Yoon UK

  • KMID: 1690273
  • J Korean Pediatr Soc.
  • 1993 Jun;36(6):882-887.
Pseudohypoparathyroidism is a medical disorder characterized by a complex disorder of renal resistance to parathyroid hormone and the mechanism underlying the disease is still unclear. The authors described two cases...
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Pseudohypoparathyroidism type Ia and type II

Kang MI, Park YB, Lee YG, Yoo SJ, Son HS, Yoon KH, Hong KS, Lee KW, Son HY, Kang SK, Kim BS

  • KMID: 1686639
  • J Korean Soc Endocrinol.
  • 1991 Jun;6(2):170-178.
No abstract available.
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Pseudohypoparathyroidism with a Ureteral Stone: Report of a Case

Kim JE, Jeon YS, Ahn JH, Kim ME, Park YH

  • KMID: 2060267
  • Korean J Urol.
  • 1990 Apr;31(2):311-314.
Pseudohypoparathyroidism is a rare hereditary disorder characterized by symptoms and signs of hypoparathyroidism in association with distinctive skeletal and developmental defects. The pseudohypoparathyroidism is due to deficient end organ response...
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